Canonical Allele Identifier: CA402995274

Gene: GAMT

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

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