Canonical Allele Identifier: CA125201
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15371
dbSNP Id: rs33990858

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226654C>A , CM000673.2:g.5226654C>A GRCh38
NC_000011.9:g.5247884C>A , CM000673.1:g.5247884C>A GRCh37
NC_000011.8:g.5204460C>A NCBI36
NG_000007.3:g.70962G>T
NG_059281.1:g.5418G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.238G>T ENSP00000494175.1:p.Asp80Tyr
ENST00000335295.4:c.238G>T MANE Select ENSP00000333994.3:p.Asp80Tyr
ENST00000380315.2:c.238G>T ENSP00000369671.2:p.Asp80Tyr
ENST00000475226.1:n.170G>T
ENST00000485743.1:n.289G>T
ENST00000633227.1:c.*54G>T ENSP00000488004.1:n.*54G>T
NM_000518.4:c.238G>T NP_000509.1:p.Asp80Tyr
NM_000518.5:c.238G>T MANE Select NP_000509.1:p.Asp80Tyr