Canonical Allele Identifier: CA125791
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 15764
ClinVar RCV Id: RCV000017075
dbSNP Id: rs34204059
MyVariant Identifiers: chr16:g.227328C>A (hg19) chr16:g.177329C>A (hg38)
PubMed: PMID:4550394 PMID:5427353 PMID:6034517
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177329C>A , CM000678.2:g.177329C>A GRCh38
NC_000016.9:g.227328C>A , CM000678.1:g.227328C>A GRCh37
NC_000016.8:g.167328C>A NCBI36
NG_000006.1:g.38192C>A
NG_059186.1:g.5679C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320868.9:c.347C>A MANE Select ENSP00000322421.5:p.Ala116Asp
ENST00000397797.1:c.251C>A ENSP00000380899.1:p.Ala84Asp
ENST00000472694.1:n.483C>A
NM_000558.4:c.347C>A NP_000549.1:p.Ala116Asp
NM_000558.5:c.347C>A MANE Select NP_000549.1:p.Ala116Asp
Search 100 bp 5'
Search 100 bp 3'