Canonical Allele Identifier: CA1949566243

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226123A= , CM000673.2:g.5226123A=	GRCh38
NC_000011.9:g.5247353A= , CM000673.1:g.5247353A=	GRCh37
NC_000011.8:g.5203929A=	NCBI36
NG_000007.3:g.71493T=
NG_059281.1:g.5949T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-397T=	ENSP00000494175.1:n.316-397T=
ENST00000335295.4:c.316-397T= MANE Select	ENSP00000333994.3:n.316-397T=
ENST00000475226.1:n.248-397T=
ENST00000633227.1:c.*132-397T=	ENSP00000488004.1:n.*132-397T=
NM_000518.4:c.316-397T=	NP_000509.1:n.316-397T=
NM_000518.5:c.316-397T= MANE Select	NP_000509.1:n.316-397T=