Canonical Allele Identifier: CA1949567598

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226607G= , CM000673.2:g.5226607G=	GRCh38
NC_000011.9:g.5247837G= , CM000673.1:g.5247837G=	GRCh37
NC_000011.8:g.5204413G=	NCBI36
NG_000007.3:g.71009C=
NG_059281.1:g.5465C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.285C=	ENSP00000494175.1:p.Asp95=
ENST00000335295.4:c.285C= MANE Select	ENSP00000333994.3:p.Asp95=
ENST00000475226.1:n.217C=
ENST00000485743.1:n.336C=
ENST00000633227.1:c.*101C=	ENSP00000488004.1:n.*101C=
NM_000518.4:c.285C=	NP_000509.1:p.Asp95=
NM_000518.5:c.285C= MANE Select	NP_000509.1:p.Asp95=