Canonical Allele Identifier: CA1949564632

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225655A= , CM000673.2:g.5225655A=	GRCh38
NC_000011.9:g.5246885A= , CM000673.1:g.5246885A=	GRCh37
NC_000011.8:g.5203461A=	NCBI36
NG_000007.3:g.71961T=
NG_059281.1:g.6417T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.387T=	ENSP00000494175.1:p.Ala129=
ENST00000335295.4:c.387T= MANE Select	ENSP00000333994.3:p.Ala129=
ENST00000475226.1:n.319T=
ENST00000633227.1:c.*203T=	ENSP00000488004.1:n.*203T=
NM_000518.4:c.387T=	NP_000509.1:p.Ala129=
NM_000518.5:c.387T= MANE Select	NP_000509.1:p.Ala129=