Canonical Allele Identifier: CA402994004

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398922C>A , CM000681.2:g.1398922C>A	GRCh38
NC_000019.9:g.1398921C>A , CM000681.1:g.1398921C>A	GRCh37
NC_000019.8:g.1349921C>A	NCBI36
NG_009785.1:g.7632G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000156.6:c.564G>T MANE Select	NP_000147.1:p.Met188Ile
ENST00000252288.8:c.564G>T MANE Select	ENSP00000252288.1:p.Met188Ile
NM_000156.5:c.564G>T	NP_000147.1:p.Met188Ile
NM_138924.2:c.564G>T	NP_620279.1:p.Met188Ile
NM_138924.3:c.564G>T	NP_620279.1:p.Met188Ile
ENST00000252288.6:c.564G>T	ENSP00000252288.1:p.Met188Ile
ENST00000447102.7:c.564G>T	ENSP00000403536.2:p.Met188Ile
ENST00000447102.8:c.564G>T	ENSP00000403536.2:p.Met188Ile
ENST00000591788.2:c.249G>T	ENSP00000466341.2:p.Met83Ile
ENST00000591788.3:c.247G>T
ENST00000640164.1:n.397G>T
ENST00000640762.1:c.495G>T	ENSP00000492031.1:p.Met165Ile