Canonical Allele Identifier: CA10651554
Gene: GAMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 328352
ClinVar RCV Id: RCV000389374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401344A>T , CM000681.2:g.1401344A>T GRCh38
NC_000019.9:g.1401343A>T , CM000681.1:g.1401343A>T GRCh37
NC_000019.8:g.1352343A>T NCBI36
NG_009785.1:g.5210T>A

Transcript Alleles

HGVS Amino-acid change
NM_000156.5:c.133T>A VV NP_000147.1:p.Trp45Arg
NM_138924.2:c.133T>A VV NP_620279.1:p.Trp45Arg
ENST00000252288.6:c.133T>A ENSP00000252288.1:p.Trp45Arg
ENST00000447102.7:c.133T>A ENSP00000403536.2:p.Trp45Arg