Canonical Allele Identifier: CA379273714
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225684C>A , CM000673.2:g.5225684C>A GRCh38
NC_000011.9:g.5246914C>A , CM000673.1:g.5246914C>A GRCh37
NC_000011.8:g.5203490C>A NCBI36
NG_000007.3:g.71932G>T
NG_059281.1:g.6388G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.358G>T ENSP00000494175.1:p.Gly120Cys
ENST00000335295.4:c.358G>T MANE Select ENSP00000333994.3:p.Gly120Cys
ENST00000475226.1:n.290G>T
ENST00000633227.1:c.*174G>T ENSP00000488004.1:n.*174G>T
NM_000518.4:c.358G>T NP_000509.1:p.Gly120Cys
NM_000518.5:c.358G>T MANE Select NP_000509.1:p.Gly120Cys