Canonical Allele Identifier: CA402990982
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2570638
ClinVar RCV Id: RCV003307397
dbSNP Id: rs2082607260
gnomAD v4: 19-1397480-A-G
MyVariant Identifiers: chr19:g.1397479A>G (hg19) chr19:g.1397480A>G (hg38)
ERepo: CA402990982/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397480A>G , CM000681.2:g.1397480A>G GRCh38
NC_000019.9:g.1397479A>G , CM000681.1:g.1397479A>G GRCh37
NC_000019.8:g.1348479A>G NCBI36
NG_008283.1:g.18597A>G
NG_009785.1:g.9074T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.590T>C MANE Select ENSP00000252288.1:p.Leu197Pro
ENST00000640164.1:n.423T>C
ENST00000640762.1:c.521T>C ENSP00000492031.1:p.Leu174Pro
ENST00000252288.6:c.590T>C ENSP00000252288.1:p.Leu197Pro
NM_000156.5:c.590T>C NP_000147.1:p.Leu197Pro
NM_000156.6:c.590T>C MANE Select NP_000147.1:p.Leu197Pro
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