Canonical Allele Identifier: CA2579829512

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249809T= , CM000673.2:g.5249809T=	GRCh38
NC_000011.9:g.5271039T= , CM000673.1:g.5271039T=	GRCh37
NC_000011.8:g.5227615T=	NCBI36
NG_000007.3:g.47807A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000330597.5:c.-5A= (HBG1) MANE Select	ENSP00000327431.4:n.-5A=
ENST00000642908.1:c.316-1322A=	ENSP00000495346.1:n.316-1322A=
ENST00000647543.1:c.379-1322A=	ENSP00000496470.1:n.379-1322A=
ENST00000648735.1:n.47A= (HBG1)
ENST00000330597.3:c.-5A= (HBG1)	ENSP00000327431.3:n.-5A=
ENST00000620888.4:c.316-1322A= (HBG2)	ENSP00000479637.1:n.316-1322A=
ENST00000623781.1:c.362T=	ENSP00000485381.1:p.Val121=
ENST00000632727.1:c.-5A= (HBG1)	ENSP00000488759.1:n.-5A=
NM_000559.2:c.-5A= (HBG1)	NP_000550.2:n.-5A=
NM_000559.3:c.-5A= (HBG1) MANE Select	NP_000550.2:n.-5A=