Canonical Allele Identifier: CA1949569283

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226762C= , CM000673.2:g.5226762C=	GRCh38
NC_000011.9:g.5247992C= , CM000673.1:g.5247992C=	GRCh37
NC_000011.8:g.5204568C=	NCBI36
NG_000007.3:g.70854G=
NG_059281.1:g.5310G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.130G=	ENSP00000494175.1:p.Glu44=
ENST00000335295.4:c.130G= MANE Select	ENSP00000333994.3:p.Glu44=
ENST00000380315.2:c.130G=	ENSP00000369671.2:p.Glu44=
ENST00000475226.1:n.62G=
ENST00000485743.1:n.181G=
ENST00000633227.1:c.114G=	ENSP00000488004.1:p.Leu38=
NM_000518.4:c.130G=	NP_000509.1:p.Glu44=
NM_000518.5:c.130G= MANE Select	NP_000509.1:p.Glu44=