Canonical Allele Identifier: CA10651554
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 328352
dbSNP Id: rs886054247
gnomAD v2: 19-1401343-A-T
gnomAD v3: 19-1401344-A-T
gnomAD v4: 19-1401344-A-T

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
ENST00000252288.8:c.133T>A MANE Select ENSP00000252288.1:p.Trp45Arg
ENST00000447102.8:c.133T>A ENSP00000403536.2:p.Trp45Arg
ENST00000640762.1:c.112+21T>A ENSP00000492031.1:n.112+21T>A
ENST00000252288.6:c.133T>A ENSP00000252288.1:p.Trp45Arg
ENST00000447102.7:c.133T>A ENSP00000403536.2:p.Trp45Arg
NM_000156.5:c.133T>A NP_000147.1:p.Trp45Arg
NM_138924.2:c.133T>A NP_620279.1:p.Trp45Arg
NM_000156.6:c.133T>A MANE Select NP_000147.1:p.Trp45Arg
NM_138924.3:c.133T>A NP_620279.1:p.Trp45Arg