Canonical Allele Identifier: CA1949583591

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249443A= , CM000673.2:g.5249443A=	GRCh38
NC_000011.9:g.5270673A= , CM000673.1:g.5270673A=	GRCh37
NC_000011.8:g.5227249A=	NCBI36
NG_000007.3:g.48173T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.240T= (HBG1) MANE Select	ENSP00000327431.4:p.Asp80=
ENST00000642908.1:c.316-956T=	ENSP00000495346.1:n.316-956T=
ENST00000647543.1:c.379-956T=	ENSP00000496470.1:n.379-956T=
ENST00000648735.1:n.291T= (HBG1)
ENST00000330597.3:c.240T= (HBG1)	ENSP00000327431.3:p.Asp80=
ENST00000620888.4:c.316-956T= (HBG2)	ENSP00000479637.1:n.316-956T=
ENST00000623781.1:c.115A=	ENSP00000485381.1:p.Ile39=
ENST00000632727.1:c.*109T= (HBG1)	ENSP00000488759.1:n.*109T=
NM_000559.2:c.240T= (HBG1)	NP_000550.2:p.Asp80=
NM_000559.3:c.240T= (HBG1) MANE Select	NP_000550.2:p.Asp80=