Canonical Allele Identifier: CA1949584014

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249785T= , CM000673.2:g.5249785T=	GRCh38
NC_000011.9:g.5271015T= , CM000673.1:g.5271015T=	GRCh37
NC_000011.8:g.5227591T=	NCBI36
NG_000007.3:g.47831A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000559.3:c.20A= (HBG1) MANE Select	NP_000550.2:p.Glu7=
ENST00000330597.5:c.20A= (HBG1) MANE Select	ENSP00000327431.4:p.Glu7=
NM_000559.2:c.20A= (HBG1)	NP_000550.2:p.Glu7=
ENST00000330597.3:c.20A= (HBG1)	ENSP00000327431.3:p.Glu7=
ENST00000620888.4:c.316-1298A= (HBG2)	ENSP00000479637.1:n.316-1298A=
ENST00000623781.1:c.338T=	ENSP00000485381.1:p.Leu113=
ENST00000632727.1:c.20A= (HBG1)	ENSP00000488759.1:p.Glu7=
ENST00000642908.1:c.316-1298A=	ENSP00000495346.1:n.316-1298A=
ENST00000647543.1:c.379-1298A=	ENSP00000496470.1:n.379-1298A=
ENST00000648735.1:n.71A= (HBG1)