Canonical Allele Identifier: CA402995479

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399524C>T , CM000681.2:g.1399524C>T	GRCh38
NC_000019.9:g.1399523C>T , CM000681.1:g.1399523C>T	GRCh37
NC_000019.8:g.1350523C>T	NCBI36
NG_009785.1:g.7030G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.391G>A MANE Select	NP_000147.1:p.Gly131Arg
ENST00000252288.8:c.391G>A MANE Select	ENSP00000252288.1:p.Gly131Arg
NM_000156.5:c.391G>A	NP_000147.1:p.Gly131Arg
NM_138924.2:c.391G>A	NP_620279.1:p.Gly131Arg
NM_138924.3:c.391G>A	NP_620279.1:p.Gly131Arg
ENST00000252288.6:c.391G>A	ENSP00000252288.1:p.Gly131Arg
ENST00000447102.7:c.391G>A	ENSP00000403536.2:p.Gly131Arg
ENST00000447102.8:c.391G>A	ENSP00000403536.2:p.Gly131Arg
ENST00000591788.2:c.76G>A	ENSP00000466341.2:p.Gly26Arg
ENST00000591788.3:c.74G>A
ENST00000640164.1:n.224G>A
ENST00000640762.1:c.322G>A	ENSP00000492031.1:p.Gly108Arg