Canonical Allele Identifier: CA304067449
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 889428
ClinVar RCV Id: RCV001123347
dbSNP Id: rs966975299
gnomAD v2: 19-1401554-C-T
gnomAD v3: 19-1401555-C-T
gnomAD v4: 19-1401555-C-T
MyVariant Identifiers: chr19:g.1401554C>T (hg19) chr19:g.1401554_1401555delinsTG (hg19) chr19:g.1401555C>T (hg38) chr19:g.1401555_1401556delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401555C>T , CM000681.2:g.1401555C>T GRCh38
NC_000019.9:g.1401554C>T , CM000681.1:g.1401554C>T GRCh37
NC_000019.8:g.1352554C>T NCBI36
NG_009785.1:g.4999G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-79G>A ENSP00000403536.2:n.-79G>A
ENST00000447102.7:c.-79G>A ENSP00000403536.2:n.-79G>A
NM_000156.5:c.-79G>A NP_000147.1:n.-79G>A
NM_138924.2:c.-79G>A NP_620279.1:n.-79G>A
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