Canonical Allele Identifier: CA1949570387

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226943C= , CM000673.2:g.5226943C=	GRCh38
NC_000011.9:g.5248173C= , CM000673.1:g.5248173C=	GRCh37
NC_000011.8:g.5204749C=	NCBI36
NG_000007.3:g.70673G=
NG_059281.1:g.5129G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.79G=	ENSP00000494175.1:p.Glu27=
ENST00000335295.4:c.79G= MANE Select	ENSP00000333994.3:p.Glu27=
ENST00000380315.2:c.79G=	ENSP00000369671.2:p.Glu27=
ENST00000485743.1:n.130G=
ENST00000633227.1:c.76+3G=	ENSP00000488004.1:n.76+3G=
NM_000518.4:c.79G=	NP_000509.1:p.Glu27=
NM_000518.5:c.79G= MANE Select	NP_000509.1:p.Glu27=