Canonical Allele Identifier: CA402995292

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399171G>T (hg19) ; chr19:g.1399172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399172G>T , CM000681.2:g.1399172G>T	GRCh38
NC_000019.9:g.1399171G>T , CM000681.1:g.1399171G>T	GRCh37
NC_000019.8:g.1350171G>T	NCBI36
NG_009785.1:g.7382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.415C>A MANE Select	ENSP00000252288.1:p.Leu139Ile
ENST00000447102.8:c.415C>A	ENSP00000403536.2:p.Leu139Ile
ENST00000591788.3:c.98C>A
ENST00000640164.1:n.248C>A
ENST00000640762.1:c.346C>A	ENSP00000492031.1:p.Leu116Ile
ENST00000252288.6:c.415C>A	ENSP00000252288.1:p.Leu139Ile
ENST00000447102.7:c.415C>A	ENSP00000403536.2:p.Leu139Ile
ENST00000591788.2:c.100C>A	ENSP00000466341.2:p.Leu34Ile
NM_000156.5:c.415C>A	NP_000147.1:p.Leu139Ile
NM_138924.2:c.415C>A	NP_620279.1:p.Leu139Ile
NM_000156.6:c.415C>A MANE Select	NP_000147.1:p.Leu139Ile
NM_138924.3:c.415C>A	NP_620279.1:p.Leu139Ile