Canonical Allele Identifier: CA1949583891

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249710T= , CM000673.2:g.5249710T=	GRCh38
NC_000011.9:g.5270940T= , CM000673.1:g.5270940T=	GRCh37
NC_000011.8:g.5227516T=	NCBI36
NG_000007.3:g.47906A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.92+3A= (HBG1) MANE Select	ENSP00000327431.4:n.92+3A=
ENST00000642908.1:c.316-1223A=	ENSP00000495346.1:n.316-1223A=
ENST00000647543.1:c.379-1223A=	ENSP00000496470.1:n.379-1223A=
ENST00000648735.1:n.143+3A= (HBG1)
ENST00000330597.3:c.92+3A= (HBG1)	ENSP00000327431.3:n.92+3A=
ENST00000620888.4:c.316-1223A= (HBG2)	ENSP00000479637.1:n.316-1223A=
ENST00000623781.1:c.265-2T=	ENSP00000485381.1:n.265-2T=
ENST00000632727.1:c.54+41A= (HBG1)	ENSP00000488759.1:n.54+41A=
NM_000559.2:c.92+3A= (HBG1)	NP_000550.2:n.92+3A=
NM_000559.3:c.92+3A= (HBG1) MANE Select	NP_000550.2:n.92+3A=