Canonical Allele Identifier: CA1949568077

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226650T= , CM000673.2:g.5226650T=	GRCh38
NC_000011.9:g.5247880T= , CM000673.1:g.5247880T=	GRCh37
NC_000011.8:g.5204456T=	NCBI36
NG_000007.3:g.70966A=
NG_059281.1:g.5422A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.242A=	ENSP00000494175.1:p.Asn81=
ENST00000335295.4:c.242A= MANE Select	ENSP00000333994.3:p.Asn81=
ENST00000380315.2:c.242A=	ENSP00000369671.2:p.Asn81=
ENST00000475226.1:n.174A=
ENST00000485743.1:n.293A=
ENST00000633227.1:c.*58A=	ENSP00000488004.1:n.*58A=
NM_000518.4:c.242A=	NP_000509.1:p.Asn81=
NM_000518.5:c.242A= MANE Select	NP_000509.1:p.Asn81=