Canonical Allele Identifier: CA036698

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[5226672C>T;5227002T>A] , CM000673.2:g.[5226672C>T;5227002T>A]	GRCh38
NC_000011.9:g.[5247902C>T;5248232T>A] , CM000673.1:g.[5247902C>T;5248232T>A]	GRCh37
NC_000011.8:g.[5204478C>T;5204808T>A]	NCBI36
NG_000007.3:g.[70614A>T;70944G>A]
NG_059281.1:g.[5070A>T;5400G>A]

Transcript Alleles

HGVS	Amino-acid Change
NM_000518.5:c.[20A>T;220G>A] MANE Select	NP_000509.1:p.[Glu7Val;Asp74Asn]
ENST00000335295.4:c.[20A>T;220G>A] MANE Select	ENSP00000333994.3:p.[Glu7Val;Asp74Asn]
NM_000518.4:c.[20A>T;220G>A]	NP_000509.1:p.[Glu7Val;Asp74Asn]
ENST00000380315.2:c.[20A>T;220G>A]	ENSP00000369671.2:p.[Glu7Val;Asp74Asn]
ENST00000485743.1:n.[71A>T;271G>A]
ENST00000633227.1:c.[20A>T;*36G>A]	ENSP00000488004.1:[p.Glu7Val;n.*36G>A]
ENST00000647020.1:c.[20A>T;220G>A]	ENSP00000494175.1:p.[Glu7Val;Asp74Asn]