Canonical Allele Identifier: CA1949569247

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226761T= , CM000673.2:g.5226761T=	GRCh38
NC_000011.9:g.5247991T= , CM000673.1:g.5247991T=	GRCh37
NC_000011.8:g.5204567T=	NCBI36
NG_000007.3:g.70855A=
NG_059281.1:g.5311A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.131A=	ENSP00000494175.1:p.Glu44=
ENST00000335295.4:c.131A= MANE Select	ENSP00000333994.3:p.Glu44=
ENST00000380315.2:c.131A=	ENSP00000369671.2:p.Glu44=
ENST00000475226.1:n.63A=
ENST00000485743.1:n.182A=
ENST00000633227.1:c.115A=	ENSP00000488004.1:p.Ser39=
NM_000518.4:c.131A=	NP_000509.1:p.Glu44=
NM_000518.5:c.131A= MANE Select	NP_000509.1:p.Glu44=