Canonical Allele Identifier: CA402994607
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1398998-C-T
COSMIC: COSM5388760 COSM5388761
MyVariant Identifiers: chr19:g.1398997C>T (hg19) chr19:g.1398998C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398998C>T , CM000681.2:g.1398998C>T GRCh38
NC_000019.9:g.1398997C>T , CM000681.1:g.1398997C>T GRCh37
NC_000019.8:g.1349997C>T NCBI36
NG_009785.1:g.7556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.488G>A MANE Select ENSP00000252288.1:p.Gly163Glu
ENST00000447102.8:c.488G>A ENSP00000403536.2:p.Gly163Glu
ENST00000591788.3:c.171G>A
ENST00000640164.1:n.321G>A
ENST00000640762.1:c.419G>A ENSP00000492031.1:p.Gly140Glu
ENST00000252288.6:c.488G>A ENSP00000252288.1:p.Gly163Glu
ENST00000447102.7:c.488G>A ENSP00000403536.2:p.Gly163Glu
ENST00000591788.2:c.173G>A ENSP00000466341.2:p.Gly58Glu
NM_000156.5:c.488G>A NP_000147.1:p.Gly163Glu
NM_138924.2:c.488G>A NP_620279.1:p.Gly163Glu
NM_000156.6:c.488G>A MANE Select NP_000147.1:p.Gly163Glu
NM_138924.3:c.488G>A NP_620279.1:p.Gly163Glu
Search 100 bp 5'
Search 100 bp 3'