Canonical Allele Identifier: CA125108
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15315
dbSNP Id: rs33971048

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226593T>G , CM000673.2:g.5226593T>G GRCh38
NC_000011.9:g.5247823T>G , CM000673.1:g.5247823T>G GRCh37
NC_000011.8:g.5204399T>G NCBI36
NG_000007.3:g.71023A>C
NG_059281.1:g.5479A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.299A>C ENSP00000494175.1:p.Asp100Ala
ENST00000335295.4:c.299A>C MANE Select ENSP00000333994.3:p.Asp100Ala
ENST00000475226.1:n.231A>C
ENST00000485743.1:n.350A>C
ENST00000633227.1:c.*115A>C ENSP00000488004.1:n.*115A>C
NM_000518.4:c.299A>C NP_000509.1:p.Asp100Ala
NM_000518.5:c.299A>C MANE Select NP_000509.1:p.Asp100Ala