Canonical Allele Identifier: CA913184710
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1409758
ClinVar RCV Id: RCV001913912 RCV003159218
dbSNP Id: rs2144636246
gnomAD v4: 19-1398959-T-TC
ERepo: CA913184710/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398965dup , CM000681.2:g.1398965dup GRCh38
NC_000019.9:g.1398964dup , CM000681.1:g.1398964dup GRCh37
NC_000019.8:g.1349964dup NCBI36
NG_009785.1:g.7594dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.526dup MANE Select ENSP00000252288.1:p.Glu176GlyfsTer15
ENST00000447102.8:c.526dup ENSP00000403536.2:p.Glu176GlyfsTer15
ENST00000591788.3:c.209dup
ENST00000640164.1:n.359dup
ENST00000640762.1:c.457dup ENSP00000492031.1:p.Glu153GlyfsTer15
ENST00000252288.6:c.526dup ENSP00000252288.1:p.Glu176GlyfsTer15
ENST00000447102.7:c.526dup ENSP00000403536.2:p.Glu176GlyfsTer15
ENST00000591788.2:c.211dup ENSP00000466341.2:p.Glu71GlyfsTer15
NM_000156.5:c.526dup NP_000147.1:p.Glu176GlyfsTer15
NM_138924.2:c.526dup NP_620279.1:p.Glu176GlyfsTer15
NM_000156.6:c.526dup MANE Select NP_000147.1:p.Glu176GlyfsTer15
NM_138924.3:c.526dup NP_620279.1:p.Glu176GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'