Canonical Allele Identifier: CA1949566442

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226231T= , CM000673.2:g.5226231T=	GRCh38
NC_000011.9:g.5247461T= , CM000673.1:g.5247461T=	GRCh37
NC_000011.8:g.5204037T=	NCBI36
NG_000007.3:g.71385A=
NG_059281.1:g.5841A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+346A=	ENSP00000494175.1:n.315+346A=
ENST00000335295.4:c.315+346A= MANE Select	ENSP00000333994.3:n.315+346A=
ENST00000475226.1:n.247+346A=
ENST00000633227.1:c.*131+346A=	ENSP00000488004.1:n.*131+346A=
NM_000518.4:c.315+346A=	NP_000509.1:n.315+346A=
NM_000518.5:c.315+346A= MANE Select	NP_000509.1:n.315+346A=