Canonical Allele Identifier: CA1949565318

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225725A= , CM000673.2:g.5225725A=	GRCh38
NC_000011.9:g.5246955A= , CM000673.1:g.5246955A=	GRCh37
NC_000011.8:g.5203531A=	NCBI36
NG_000007.3:g.71891T=
NG_059281.1:g.6347T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.317T=	ENSP00000494175.1:p.Leu106=
ENST00000335295.4:c.317T= MANE Select	ENSP00000333994.3:p.Leu106=
ENST00000475226.1:n.249T=
ENST00000633227.1:c.*133T=	ENSP00000488004.1:n.*133T=
NM_000518.4:c.317T=	NP_000509.1:p.Leu106=
NM_000518.5:c.317T= MANE Select	NP_000509.1:p.Leu106=