Canonical Allele Identifier: CA1949568642

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226703A= , CM000673.2:g.5226703A=	GRCh38
NC_000011.9:g.5247933A= , CM000673.1:g.5247933A=	GRCh37
NC_000011.8:g.5204509A=	NCBI36
NG_000007.3:g.70913T=
NG_059281.1:g.5369T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.189T=	ENSP00000494175.1:p.Ala63=
ENST00000335295.4:c.189T= MANE Select	ENSP00000333994.3:p.Ala63=
ENST00000380315.2:c.189T=	ENSP00000369671.2:p.Ala63=
ENST00000475226.1:n.121T=
ENST00000485743.1:n.240T=
ENST00000633227.1:c.*5T=	ENSP00000488004.1:n.*5T=
NM_000518.4:c.189T=	NP_000509.1:p.Ala63=
NM_000518.5:c.189T= MANE Select	NP_000509.1:p.Ala63=