Canonical Allele Identifier: CA9043628
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 495685
ClinVar RCV Id: RCV000587091 RCV001382861
dbSNP Id: rs749390953
ExAC: 19:1398993 G / GC
gnomAD v2: 19-1398993-G-GC
gnomAD v3: 19-1398994-G-GC
gnomAD v4: 19-1398994-G-GC
COSMIC: COSM1390837 COSM1390838
MyVariant Identifiers: chr19:g.1398994dup (hg19) chr19:g.1398994_1398995insC (hg19) chr19:g.1398993_1398994insC (hg19) chr19:g.1398995dup (hg38) chr19:g.1398995_1398996insC (hg38) chr19:g.1398994_1398995insC (hg38)
PubMed: PMID:11136556 PMID:11978605 PMID:12557293 PMID:15108290
ERepo: CA9043628/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399000dup , CM000681.2:g.1399000dup GRCh38
NC_000019.9:g.1398999dup , CM000681.1:g.1398999dup GRCh37
NC_000019.8:g.1349999dup NCBI36
NG_009785.1:g.7559dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.491dup MANE Select ENSP00000252288.1:p.Val165ArgfsTer26
ENST00000447102.8:c.491dup ENSP00000403536.2:p.Val165ArgfsTer26
ENST00000591788.3:c.174dup
ENST00000640164.1:n.324dup
ENST00000640762.1:c.422dup ENSP00000492031.1:p.Val142ArgfsTer26
ENST00000252288.6:c.491dup ENSP00000252288.1:p.Val165ArgfsTer26
ENST00000447102.7:c.491dup ENSP00000403536.2:p.Val165ArgfsTer26
ENST00000591788.2:c.176dup ENSP00000466341.2:p.Val60ArgfsTer26
NM_000156.5:c.491dup NP_000147.1:p.Val165ArgfsTer26
NM_138924.2:c.491dup NP_620279.1:p.Val165ArgfsTer26
NM_000156.6:c.491dup MANE Select NP_000147.1:p.Val165ArgfsTer26
NM_138924.3:c.491dup NP_620279.1:p.Val165ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'