HAL
histidine ammonia-lyase
Summary
Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Known Variants157 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886049892 | 12:96,366,462 | C/T | — | uncertain significance |
| rs148189130 | 12:96,366,492 | G/A | — | uncertain significance |
| rs3812807 | 12:96,366,511 | T/C | — | benign |
| rs886049893 | 12:96,366,521 | T/G | — | uncertain significance |
| rs141219113 | 12:96,366,601 | C/T | — | uncertain significance |
| rs192416544 | 12:96,366,651 | G/T | — | uncertain significance |
| rs1059845 | 12:96,366,698 | G/A | — | benign |
| rs1316771084 | 12:96,366,710 | A/C | — | uncertain significance |
| rs886049894 | 12:96,366,727 | A/G | — | uncertain significance |
| rs1059844 | 12:96,366,769 | G/T | — | benign |
| rs886049895 | 12:96,366,832 | T/C | — | uncertain significance |
| rs745355227 | 12:96,366,841 | C/A | — | uncertain significance |
| rs368835467 | 12:96,366,849 | G/A | — | uncertain significance |
| rs762280245 | 12:96,367,034 | A/C | — | uncertain significance |
| rs57838042 | 12:96,367,096 | A/G | — | likely benign |
| rs117951758 | 12:96,367,174 | G/A | — | likely benign |
| rs549057913 | 12:96,367,221 | C/T | — | uncertain significance |
| rs115037995 | 12:96,367,254 | G/A | — | uncertain significance |
| rs886049897 | 12:96,367,282 | A/T | — | uncertain significance |
| rs2080679383 | 12:96,367,337 | A/G | — | uncertain significance |
| rs113875416 | 12:96,367,393 | C/T | — | likely benign |
| rs886049898 | 12:96,367,407 | T/C | — | uncertain significance |
| rs137976982 | 12:96,367,455 | C/T | — | uncertain significance |
| rs144002506 | 12:96,367,463 | C/A | — | uncertain significance |
| rs117562170 | 12:96,367,480 | C/A | — | likely benign |
| rs886049899 | 12:96,367,501 | T/A | — | uncertain significance |
| rs186840501 | 12:96,367,582 | G/C | — | uncertain significance |
| rs796922923 | 12:96,367,618 | G/A | — | uncertain significance |
| rs886049900 | 12:96,367,783 | T/G | — | uncertain significance |
| rs116122784 | 12:96,367,819 | G/A | — | likely benign |
| rs140039557 | 12:96,367,878 | G/A | — | uncertain significance |
| rs2230885 | 12:96,367,900 | T/G | — | benign |
| rs1455905331 | 12:96,368,006 | C/T | — | uncertain significance |
| rs1389533435 | 12:96,368,015 | G/A | — | uncertain significance |
| rs112610390 | 12:96,368,028 | C/T | — | likely benign |
| rs200780494 | 12:96,368,033 | T/C | — | uncertain significance |
| rs755949907 | 12:96,368,036 | T/C | — | uncertain significance |
| rs144698271 | 12:96,368,051 | G/A | — | uncertain significance |
| rs2080719373 | 12:96,370,217 | A/G | — | uncertain significance |
| rs377498665 | 12:96,370,239 | C/T | — | uncertain significance |
| rs137860207 | 12:96,370,240 | G/A | — | likely benign |
| rs759881725 | 12:96,370,242 | T/C | — | uncertain significance |
| rs149461774 | 12:96,370,246 | C/T | — | uncertain significance |
| rs143935341 | 12:96,370,247 | G/A | — | uncertain significance |
| rs781008673 | 12:96,370,259 | C/T | — | uncertain significance |
| rs189238113 | 12:96,370,280 | C/A | — | uncertain significance |
| rs752249746 | 12:96,370,281 | A/G | — | uncertain significance |
| rs201942023 | 12:96,370,367 | T/G | — | uncertain significance |
| rs201632329 | 12:96,370,385 | G/C | — | uncertain significance |
| rs141674733 | 12:96,370,415 | G/A | — | uncertain significance |
| rs765722855 | 12:96,370,437 | G/A | — | uncertain significance |
| rs781397723 | 12:96,370,453 | C/G | — | uncertain significance |
| rs2499632707 | 12:96,370,458 | A/T | — | uncertain significance |
| rs61937878 | 12:96,371,731 | C/T | — | uncertain significance |
| rs150591434 | 12:96,371,767 | A/G | — | uncertain significance |
| rs183059673 | 12:96,371,782 | C/T | — | uncertain significance |
| rs185963433 | 12:96,371,783 | G/A | — | likely benign |
| rs115620008 | 12:96,371,792 | C/T | — | conflicting classifications of pathogenicity |
| rs201071054 | 12:96,371,798 | T/C | — | likely benign |
| rs754819630 | 12:96,371,826 | G/A | — | uncertain significance |
| rs721199 | 12:96,374,057 | T/A | — | — |
| rs2499639167 | 12:96,374,346 | C/T | — | uncertain significance |
| rs781581441 | 12:96,374,348 | G/A | — | uncertain significance |
| rs141635447 | 12:96,374,381 | C/A | — | uncertain significance |
| rs886049901 | 12:96,374,400 | A/G | — | uncertain significance |
| rs759917804 | 12:96,374,425 | A/C | — | uncertain significance |
| rs372729432 | 12:96,374,437 | C/T | — | uncertain significance |
| rs147706824 | 12:96,374,439 | C/T | — | uncertain significance |
| rs142147961 | 12:96,374,475 | T/G | — | benign |
| rs377299266 | 12:96,374,480 | A/G | — | uncertain significance |
| rs368169258 | 12:96,374,499 | C/A | — | uncertain significance |
| rs6538694 | 12:96,374,563 | T/C | — | benign |
| rs150083495 | 12:96,374,600 | G/C | — | uncertain significance |
| rs7297245 | 12:96,374,614 | C/T | missense variant | benign |
| rs141634423 | 12:96,377,687 | A/G | — | association |
| rs1382763887 | 12:96,377,693 | T/G | — | uncertain significance |
| rs1565988698 | 12:96,377,699 | G/C | — | uncertain significance |
| rs756130255 | 12:96,377,747 | G/A | — | uncertain significance |
| rs1349471128 | 12:96,377,765 | T/C | — | uncertain significance |
| rs3819817 | 12:96,378,771 | C/T | regulatory region variant | — |
| rs10859996 | 12:96,378,807 | C/T | regulatory region variant | — |
| rs139643676 | 12:96,379,723 | C/T | — | uncertain significance |
| rs367677601 | 12:96,379,724 | G/A | — | uncertain significance |
| rs1949881722 | 12:96,379,729 | C/T | — | uncertain significance |
| rs747622506 | 12:96,379,859 | G/T | — | uncertain significance |
| rs552431512 | 12:96,379,863 | T/C | — | uncertain significance |
| rs117991621 | 12:96,379,884 | C/T | — | conflicting classifications of pathogenicity |
| rs1949884460 | 12:96,379,900 | C/T | — | uncertain significance |
| rs181887143 | 12:96,379,914 | C/T | — | uncertain significance |
| rs762862322 | 12:96,380,878 | C/T | — | uncertain significance |
| rs375314208 | 12:96,380,913 | C/T | — | uncertain significance |
| rs121434330 | 12:96,380,931 | C/T | missense variant | affects |
| rs34457757 | 12:96,380,932 | G/A | — | association |
| rs750732966 | 12:96,380,956 | A/G | — | uncertain significance |
| rs11108364 | 12:96,380,975 | G/A | — | benign |
| rs189938038 | 12:96,380,997 | C/T | — | uncertain significance |
| rs35144639 | 12:96,384,162 | G/A | — | conflicting classifications of pathogenicity |
| rs140891326 | 12:96,384,185 | C/T | — | uncertain significance |
| rs779113747 | 12:96,384,186 | C/T | — | uncertain significance |
| rs773965130 | 12:96,384,223 | A/G | — | uncertain significance |
Showing 100 of 157 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.