Canonical Allele Identifier: CA1949583760

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249564T= , CM000673.2:g.5249564T=	GRCh38
NC_000011.9:g.5270794T= , CM000673.1:g.5270794T=	GRCh37
NC_000011.8:g.5227370T=	NCBI36
NG_000007.3:g.48052A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.119A= (HBG1) MANE Select	ENSP00000327431.4:p.Gln40=
ENST00000642908.1:c.316-1077A=	ENSP00000495346.1:n.316-1077A=
ENST00000647543.1:c.379-1077A=	ENSP00000496470.1:n.379-1077A=
ENST00000648735.1:n.170A= (HBG1)
ENST00000330597.3:c.119A= (HBG1)	ENSP00000327431.3:p.Gln40=
ENST00000620888.4:c.316-1077A= (HBG2)	ENSP00000479637.1:n.316-1077A=
ENST00000623781.1:c.236T=	ENSP00000485381.1:p.Leu79=
ENST00000632727.1:c.81A= (HBG1)	ENSP00000488759.1:p.Pro27=
NM_000559.2:c.119A= (HBG1)	NP_000550.2:p.Gln40=
NM_000559.3:c.119A= (HBG1) MANE Select	NP_000550.2:p.Gln40=