Canonical Allele Identifier: CA1949583316

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249140A= , CM000673.2:g.5249140A=	GRCh38
NC_000011.9:g.5270370A= , CM000673.1:g.5270370A=	GRCh37
NC_000011.8:g.5226946A=	NCBI36
NG_000007.3:g.48476T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+228T= (HBG1) MANE Select	ENSP00000327431.4:n.315+228T=
ENST00000642908.1:c.316-653T=	ENSP00000495346.1:n.316-653T=
ENST00000647543.1:c.379-653T=	ENSP00000496470.1:n.379-653T=
ENST00000648735.1:n.594T= (HBG1)
ENST00000330597.3:c.315+228T= (HBG1)	ENSP00000327431.3:n.315+228T=
ENST00000620888.4:c.316-653T= (HBG2)	ENSP00000479637.1:n.316-653T=
ENST00000623781.1:c.43-231A=	ENSP00000485381.1:n.43-231A=
ENST00000632727.1:c.*184+228T= (HBG1)	ENSP00000488759.1:n.*184+228T=
NM_000559.2:c.315+228T= (HBG1)	NP_000550.2:n.315+228T=
NM_000559.3:c.315+228T= (HBG1) MANE Select	NP_000550.2:n.315+228T=