Canonical Allele Identifier: CA402994533
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 818179
ClinVar RCV Id: RCV001009565 RCV001860605 RCV003490008
dbSNP Id: rs1600158346
gnomAD v4: 19-1398981-A-G
MyVariant Identifiers: chr19:g.1398980A>G (hg19) chr19:g.1398981A>G (hg38)
ERepo: CA402994533/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398981A>G , CM000681.2:g.1398981A>G GRCh38
NC_000019.9:g.1398980A>G , CM000681.1:g.1398980A>G GRCh37
NC_000019.8:g.1349980A>G NCBI36
NG_009785.1:g.7573T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.505T>C MANE Select ENSP00000252288.1:p.Cys169Arg
ENST00000447102.8:c.505T>C ENSP00000403536.2:p.Cys169Arg
ENST00000591788.3:c.188T>C
ENST00000640164.1:n.338T>C
ENST00000640762.1:c.436T>C ENSP00000492031.1:p.Cys146Arg
ENST00000252288.6:c.505T>C ENSP00000252288.1:p.Cys169Arg
ENST00000447102.7:c.505T>C ENSP00000403536.2:p.Cys169Arg
ENST00000591788.2:c.190T>C ENSP00000466341.2:p.Cys64Arg
NM_000156.5:c.505T>C NP_000147.1:p.Cys169Arg
NM_138924.2:c.505T>C NP_620279.1:p.Cys169Arg
NM_000156.6:c.505T>C MANE Select NP_000147.1:p.Cys169Arg
NM_138924.3:c.505T>C NP_620279.1:p.Cys169Arg
Search 100 bp 5'
Search 100 bp 3'