Canonical Allele Identifier: CA217113938
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs33985847

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226662G>A , CM000673.2:g.5226662G>A GRCh38
NC_000011.9:g.5247892G>A , CM000673.1:g.5247892G>A GRCh37
NC_000011.8:g.5204468G>A NCBI36
NG_000007.3:g.70954C>T
NG_059281.1:g.5410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.230C>T ENSP00000494175.1:p.Ala77Val
ENST00000335295.4:c.230C>T MANE Select ENSP00000333994.3:p.Ala77Val
ENST00000380315.2:c.230C>T ENSP00000369671.2:p.Ala77Val
ENST00000475226.1:n.162C>T
ENST00000485743.1:n.281C>T
ENST00000633227.1:c.*46C>T ENSP00000488004.1:n.*46C>T
NM_000518.4:c.230C>T NP_000509.1:p.Ala77Val
NM_000518.5:c.230C>T MANE Select NP_000509.1:p.Ala77Val