HBA1

hemoglobin subunit alpha 1

Summary

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]

Known Variants207 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2142009890	16:209,709	T/C	—	other
rs2858942	16:225,653	A/C	regulatory region variant	—
rs112128183	16:226,264	G/C	—	—
rs2505436026	16:226,430	C/G	—	uncertain significance
rs142815667	16:226,439	C/T	—	benign
rs1555449548	16:226,636	C/A	—	uncertain significance
rs866267079	16:226,639	C/G	—	uncertain significance
rs1276035978	16:226,664	C/T	—	likely benign
rs370305736	16:226,674	C/T	—	likely benign
rs750737757	16:226,675	C/G	—	likely benign
rs780511253	16:226,679	A/C	—	uncertain significance
rs374054030	16:226,692	C/G	—	likely benign
rs571903706	16:226,701	C/G	—	conflicting classifications of pathogenicity
rs34220980	16:226,716	A/G	missense variant	pathogenic
rs1316527998	16:226,717	T/G	—	pathogenic
rs281864802	16:226,720	T/A	—	other
rs36030576	16:226,723	T/G	missense variant	other
rs35850071	16:226,726	C/T	missense variant	other
rs34751764	16:226,731	G/A	missense variant	uncertain significance
rs34090856	16:226,732	C/A	missense variant	uncertain significance
rs33961916	16:226,734	G/T	missense variant	uncertain significance
rs33986902	16:226,735	A/G	missense variant	pathogenic
rs34410516	16:226,739	G/C	missense variant	likely benign
rs28928885	16:226,745	C/G	missense variant	other
rs33938574	16:226,749	A/C	missense variant	other
rs281860646	16:226,751	G/C	—	other
rs35615982	16:226,753	C/A	missense variant	other
rs33964317	16:226,758	T/C	missense variant	pathogenic
rs63750090	16:226,759	G/A	stop gained	pathogenic
rs1596573335	16:226,760	G/A	—	pathogenic
rs35816645	16:226,761	G/T	missense variant	uncertain significance
rs281865560	16:226,762	G/A	—	conflicting classifications of pathogenicity
rs41407250	16:226,764	A/G	missense variant	pathogenic
rs35210126	16:226,765	A/T	missense variant	other
rs281860648	16:226,766	G/C	—	other
rs34504387	16:226,770	G/C	missense variant	likely benign
rs35993097	16:226,771	G/A	missense variant	other
rs35628685	16:226,774	C/A	missense variant	other
rs34708054	16:226,776	C/T	missense variant	other
rs281864571	16:226,777	—	—	pathogenic
rs33943087	16:226,777	A/C	missense variant	pathogenic
rs281864502	16:226,778	C/A	—	conflicting classifications of pathogenicity
rs34324664	16:226,779	G/C	missense variant	other
rs11548605	16:226,780	C/A	missense variant	other
rs34608326	16:226,783	G/A	missense variant	other
rs768017043	16:226,784	C/T	—	conflicting classifications of pathogenicity
rs33939620	16:226,785	G/A	missense variant	uncertain significance
rs33939421	16:226,786	A/G	missense variant	other
rs281860684	16:226,787	G/T	—	other
rs34743106	16:226,788	T/C	missense variant	other
rs28928880	16:226,789	A/G	missense variant	uncertain significance
rs35477770	16:226,795	C/A	missense variant	other
rs34776279	16:226,797	G/A	missense variant	other
rs33964507	16:226,798	A/G	missense variant	other
rs41530750	16:226,799	G/T	missense variant	pathogenic
rs33993166	16:226,806	G/A	missense variant	pathogenic
rs1201093320	16:226,811	G/A	—	pathogenic
rs63750918	16:226,815	G/A	—	uncertain significance
rs1165288508	16:226,819	C/T	—	likely benign
rs556086584	16:226,848	C/T	—	conflicting classifications of pathogenicity
rs577938658	16:226,849	C/T	—	benign
rs545248706	16:226,851	G/T	—	likely benign
rs1298836193	16:226,926	A/G	—	pathogenic
rs34883113	16:226,927	G/A	splice region variant	pathogenic
rs281864566	16:226,930	T/A	—	conflicting classifications of pathogenicity
rs1455943416	16:226,931	G/A	—	likely pathogenic
rs35203445	16:226,936	T/G	missense variant	uncertain significance
rs35776155	16:226,945	C/G	missense variant	other
rs34667595	16:226,946	—	—	—
rs34492931	16:226,953	A/G	missense variant	other
rs41416747	16:226,954	A/C	missense variant	—
rs28928886	16:226,955	G/C	missense variant	other
rs34890875	16:226,956	A/T	missense variant	other
rs35511459	16:226,962	T/G	missense variant	other
rs33978134	16:226,966	C/T	missense variant	pathogenic
rs33931984	16:226,968	C/G	missense variant	other
rs28928883	16:226,969	A/G	missense variant	other
rs281860685	16:226,970	C/G	—	other
rs34269448	16:226,974	G/A	missense variant	uncertain significance
rs33944368	16:226,975	A/C	missense variant	other
rs281864480	16:226,978	T/C	—	uncertain significance
rs1318437795	16:226,982	C/A	—	conflicting classifications of pathogenicity
rs33967561	16:226,984	A/G	missense variant	other
rs33960522	16:226,986	G/A	missense variant	likely benign
rs35934411	16:226,987	G/A	missense variant	other
rs34574239	16:226,993	C/A	missense variant	other
rs35317336	16:226,995	C/G	missense variant	likely benign
rs36024711	16:226,996	A/G	missense variant	other
rs34068598	16:226,998	G/C	missense variant	other
rs34182019	16:227,001	A/G	missense variant	other
rs33949106	16:227,002	A/C	missense variant	other
rs281860657	16:227,003	G/C	—	other
rs35252931	16:227,004	G/C	missense variant	other
rs36062788	16:227,005	G/A	missense variant	likely benign
rs35213748	16:227,007	C/T	missense variant	other
rs281864895	16:227,010	G/C	—	pathogenic
rs28928878	16:227,011	G/A	missense variant	pathogenic
rs34259907	16:227,013	A/G	missense variant	uncertain significance
rs281860659	16:227,015	G/A	—	other
rs41381645	16:227,017	A/C	missense variant	other

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.