Canonical Allele Identifier: CA125957
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15853
ClinVar RCV Id: RCV000017198
dbSNP Id: rs63750613
MyVariant Identifiers: chr16:g.227373C>A (hg19) chr16:g.177374C>A (hg38)
PubMed: PMID:1428950
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177374C>A , CM000678.2:g.177374C>A GRCh38
NC_000016.9:g.227373C>A , CM000678.1:g.227373C>A GRCh37
NC_000016.8:g.167373C>A NCBI36
NG_000006.1:g.38237C>A
NG_059186.1:g.5724C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.392C>A MANE Select ENSP00000322421.5:p.Ala131Asp
ENST00000397797.1:c.296C>A ENSP00000380899.1:p.Ala99Asp
ENST00000472694.1:n.528C>A
NM_000558.4:c.392C>A NP_000549.1:p.Ala131Asp
NM_000558.5:c.392C>A MANE Select NP_000549.1:p.Ala131Asp
Search 100 bp 5'
Search 100 bp 3'