Canonical Allele Identifier: CA125396
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15526
dbSNP Id: rs35485099

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225695G>T , CM000673.2:g.5225695G>T GRCh38
NC_000011.9:g.5246925G>T , CM000673.1:g.5246925G>T GRCh37
NC_000011.8:g.5203501G>T NCBI36
NG_000007.3:g.71921C>A
NG_059281.1:g.6377C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.347C>A ENSP00000494175.1:p.Ala116Asp
ENST00000335295.4:c.347C>A MANE Select ENSP00000333994.3:p.Ala116Asp
ENST00000475226.1:n.279C>A
ENST00000633227.1:c.*163C>A ENSP00000488004.1:n.*163C>A
NM_000518.4:c.347C>A NP_000509.1:p.Ala116Asp
NM_000518.5:c.347C>A MANE Select NP_000509.1:p.Ala116Asp