Canonical Allele Identifier: CA1949583629

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249463C= , CM000673.2:g.5249463C=	GRCh38
NC_000011.9:g.5270693C= , CM000673.1:g.5270693C=	GRCh37
NC_000011.8:g.5227269C=	NCBI36
NG_000007.3:g.48153G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000559.3:c.220G= (HBG1) MANE Select	NP_000550.2:p.Asp74=
ENST00000330597.5:c.220G= (HBG1) MANE Select	ENSP00000327431.4:p.Asp74=
NM_000559.2:c.220G= (HBG1)	NP_000550.2:p.Asp74=
ENST00000330597.3:c.220G= (HBG1)	ENSP00000327431.3:p.Asp74=
ENST00000620888.4:c.316-976G= (HBG2)	ENSP00000479637.1:n.316-976G=
ENST00000623781.1:c.135C=	ENSP00000485381.1:p.Ile45=
ENST00000632727.1:c.*89G= (HBG1)	ENSP00000488759.1:n.*89G=
ENST00000642908.1:c.316-976G=	ENSP00000495346.1:n.316-976G=
ENST00000647543.1:c.379-976G=	ENSP00000496470.1:n.379-976G=
ENST00000648735.1:n.271G= (HBG1)