Canonical Allele Identifier: CA402994336

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398960C>T , CM000681.2:g.1398960C>T	GRCh38
NC_000019.9:g.1398959C>T , CM000681.1:g.1398959C>T	GRCh37
NC_000019.8:g.1349959C>T	NCBI36
NG_009785.1:g.7594G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.526G>A MANE Select	NP_000147.1:p.Glu176Lys
ENST00000252288.8:c.526G>A MANE Select	ENSP00000252288.1:p.Glu176Lys
NM_000156.5:c.526G>A	NP_000147.1:p.Glu176Lys
NM_138924.2:c.526G>A	NP_620279.1:p.Glu176Lys
NM_138924.3:c.526G>A	NP_620279.1:p.Glu176Lys
ENST00000252288.6:c.526G>A	ENSP00000252288.1:p.Glu176Lys
ENST00000447102.7:c.526G>A	ENSP00000403536.2:p.Glu176Lys
ENST00000447102.8:c.526G>A	ENSP00000403536.2:p.Glu176Lys
ENST00000591788.2:c.211G>A	ENSP00000466341.2:p.Glu71Lys
ENST00000591788.3:c.209G>A
ENST00000640164.1:n.359G>A
ENST00000640762.1:c.457G>A	ENSP00000492031.1:p.Glu153Lys