Canonical Allele Identifier: CA402995388
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2446459
ClinVar RCV Id: RCV003159293
dbSNP Id: rs774144200
gnomAD v3: 19-1399184-C-A
gnomAD v4: 19-1399184-C-A
MyVariant Identifiers: chr19:g.1399183C>A (hg19) chr19:g.1399184C>A (hg38)
ERepo: CA402995388/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399184C>A , CM000681.2:g.1399184C>A GRCh38
NC_000019.9:g.1399183C>A , CM000681.1:g.1399183C>A GRCh37
NC_000019.8:g.1350183C>A NCBI36
NG_009785.1:g.7370G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.403G>T MANE Select ENSP00000252288.1:p.Asp135Tyr
ENST00000447102.8:c.403G>T ENSP00000403536.2:p.Asp135Tyr
ENST00000591788.3:c.86G>T
ENST00000640164.1:n.236G>T
ENST00000640762.1:c.334G>T ENSP00000492031.1:p.Asp112Tyr
ENST00000252288.6:c.403G>T ENSP00000252288.1:p.Asp135Tyr
ENST00000447102.7:c.403G>T ENSP00000403536.2:p.Asp135Tyr
ENST00000591788.2:c.88G>T ENSP00000466341.2:p.Asp30Tyr
NM_000156.5:c.403G>T NP_000147.1:p.Asp135Tyr
NM_138924.2:c.403G>T NP_620279.1:p.Asp135Tyr
NM_000156.6:c.403G>T MANE Select NP_000147.1:p.Asp135Tyr
NM_138924.3:c.403G>T NP_620279.1:p.Asp135Tyr
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