Canonical Allele Identifier: CA125426
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15547
ClinVar RCV Id: RCV000016813
dbSNP Id: rs33910475

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225624T>A , CM000673.2:g.5225624T>A GRCh38
NC_000011.9:g.5246854T>A , CM000673.1:g.5246854T>A GRCh37
NC_000011.8:g.5203430T>A NCBI36
NG_000007.3:g.71992A>T
NG_059281.1:g.6448A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.418A>T ENSP00000494175.1:p.Asn140Tyr
ENST00000335295.4:c.418A>T MANE Select ENSP00000333994.3:p.Asn140Tyr
ENST00000633227.1:c.*234A>T ENSP00000488004.1:n.*234A>T
NM_000518.4:c.418A>T NP_000509.1:p.Asn140Tyr
NM_000518.5:c.418A>T MANE Select NP_000509.1:p.Asn140Tyr