Canonical Allele Identifier: CA402998125

Gene: GAMT

Linked Data

• dbSNP Id: rs1222736128
• gnomAD v3: 19-1401358-G-T
• gnomAD v4: 19-1401358-G-T
• MyVariant Identifiers: chr19:g.1401357G>T (hg19) ; chr19:g.1401358G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401358G>T , CM000681.2:g.1401358G>T	GRCh38
NC_000019.9:g.1401357G>T , CM000681.1:g.1401357G>T	GRCh37
NC_000019.8:g.1352357G>T	NCBI36
NG_009785.1:g.5196C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.119C>A MANE Select	ENSP00000252288.1:p.Pro40Gln
ENST00000447102.8:c.119C>A	ENSP00000403536.2:p.Pro40Gln
ENST00000640762.1:c.112+7C>A	ENSP00000492031.1:n.112+7C>A
ENST00000252288.6:c.119C>A	ENSP00000252288.1:p.Pro40Gln
ENST00000447102.7:c.119C>A	ENSP00000403536.2:p.Pro40Gln
NM_000156.5:c.119C>A	NP_000147.1:p.Pro40Gln
NM_138924.2:c.119C>A	NP_620279.1:p.Pro40Gln
NM_000156.6:c.119C>A MANE Select	NP_000147.1:p.Pro40Gln
NM_138924.3:c.119C>A	NP_620279.1:p.Pro40Gln