Canonical Allele Identifier: CA037538
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.[5225678C>T;5227002T>A] , CM000673.2:g.[5225678C>T;5227002T>A] GRCh38
NC_000011.9:g.[5246908C>T;5248232T>A] , CM000673.1:g.[5246908C>T;5248232T>A] GRCh37
NC_000011.8:g.[5203484C>T;5204808T>A] NCBI36
NG_000007.3:g.[70614A>T;71938G>A]
NG_059281.1:g.[5070A>T;6394G>A]

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.[20A>T;364G>A] ENSP00000494175.1:p.[Glu7Val;Glu122Lys]
ENST00000335295.4:c.[20A>T;364G>A] MANE Select ENSP00000333994.3:p.[Glu7Val;Glu122Lys]
ENST00000633227.1:c.[20A>T;*180G>A] ENSP00000488004.1:[p.Glu7Val;n.*180G>A]
NM_000518.4:c.[20A>T;364G>A] NP_000509.1:p.[Glu7Val;Glu122Lys]
NM_000518.5:c.[20A>T;364G>A] MANE Select NP_000509.1:p.[Glu7Val;Glu122Lys]