Canonical Allele Identifier: CA125861
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15800
ClinVar RCV Id: RCV000017140 RCV001811179 RCV002482880
dbSNP Id: rs63749948
gnomAD v4: 16-177314-C-A
MyVariant Identifiers: chr16:g.227313C>A (hg19) chr16:g.177314C>A (hg38)
PubMed: PMID:7470621
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177314C>A , CM000678.2:g.177314C>A GRCh38
NC_000016.9:g.227313C>A , CM000678.1:g.227313C>A GRCh37
NC_000016.8:g.167313C>A NCBI36
NG_000006.1:g.38177C>A
NG_059186.1:g.5664C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.332C>A MANE Select ENSP00000322421.5:p.Ala111Asp
ENST00000397797.1:c.236C>A ENSP00000380899.1:p.Ala79Asp
ENST00000472694.1:n.468C>A
NM_000558.4:c.332C>A NP_000549.1:p.Ala111Asp
NM_000558.5:c.332C>A MANE Select NP_000549.1:p.Ala111Asp
Search 100 bp 5'
Search 100 bp 3'