Canonical Allele Identifier: CA402995274
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 225369
ClinVar RCV Id: RCV000490258 RCV001211627
dbSNP Id: rs747656257
MyVariant Identifiers: chr19:g.1399167G>T (hg19) chr19:g.1399168G>T (hg38)
ERepo: CA402995274/MONDO:0012999/026
PubMed: PMID:15108290 PMID:17171576
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399168G>T , CM000681.2:g.1399168G>T GRCh38
NC_000019.9:g.1399167G>T , CM000681.1:g.1399167G>T GRCh37
NC_000019.8:g.1350167G>T NCBI36
NG_009785.1:g.7386C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.419C>A MANE Select ENSP00000252288.1:p.Ser140Ter
ENST00000447102.8:c.419C>A ENSP00000403536.2:p.Ser140Ter
ENST00000591788.3:c.102C>A
ENST00000640164.1:n.252C>A
ENST00000640762.1:c.350C>A ENSP00000492031.1:p.Ser117Ter
ENST00000252288.6:c.419C>A ENSP00000252288.1:p.Ser140Ter
ENST00000447102.7:c.419C>A ENSP00000403536.2:p.Ser140Ter
ENST00000591788.2:c.104C>A ENSP00000466341.2:p.Ser35Ter
NM_000156.5:c.419C>A NP_000147.1:p.Ser140Ter
NM_138924.2:c.419C>A NP_620279.1:p.Ser140Ter
NM_000156.6:c.419C>A MANE Select NP_000147.1:p.Ser140Ter
NM_138924.3:c.419C>A NP_620279.1:p.Ser140Ter
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