Canonical Allele Identifier: CA1949567326

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226578C= , CM000673.2:g.5226578C=	GRCh38
NC_000011.9:g.5247808C= , CM000673.1:g.5247808C=	GRCh37
NC_000011.8:g.5204384C=	NCBI36
NG_000007.3:g.71038G=
NG_059281.1:g.5494G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.314G=	ENSP00000494175.1:p.Arg105=
ENST00000335295.4:c.314G= MANE Select	ENSP00000333994.3:p.Arg105=
ENST00000475226.1:n.246G=
ENST00000485743.1:n.365G=
ENST00000633227.1:c.*130G=	ENSP00000488004.1:n.*130G=
NM_000518.4:c.314G=	NP_000509.1:p.Arg105=
NM_000518.5:c.314G= MANE Select	NP_000509.1:p.Arg105=