Canonical Allele Identifier: CA124818
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15149
dbSNP Id: rs33936254

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226954T>A , CM000673.2:g.5226954T>A GRCh38
NC_000011.9:g.5248184T>A , CM000673.1:g.5248184T>A GRCh37
NC_000011.8:g.5204760T>A NCBI36
NG_000007.3:g.70662A>T
NG_059281.1:g.5118A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.68A>T ENSP00000494175.1:p.Glu23Val
ENST00000335295.4:c.68A>T MANE Select ENSP00000333994.3:p.Glu23Val
ENST00000380315.2:c.68A>T ENSP00000369671.2:p.Glu23Val
ENST00000485743.1:n.119A>T
ENST00000633227.1:c.68A>T ENSP00000488004.1:p.Glu23Val
NM_000518.4:c.68A>T NP_000509.1:p.Glu23Val
NM_000518.5:c.68A>T MANE Select NP_000509.1:p.Glu23Val