Canonical Allele Identifier: CA9043749
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 965660
ClinVar RCV Id: RCV001240165 RCV001828947
dbSNP Id: rs140778208
ExAC: 19:1399836 C / T
gnomAD v2: 19-1399836-C-T
gnomAD v3: 19-1399837-C-T
gnomAD v4: 19-1399837-C-T
COSMIC: COSM991760 COSM991761
MyVariant Identifiers: chr19:g.1399836C>T (hg19) chr19:g.1399837C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399837C>T , CM000681.2:g.1399837C>T GRCh38
NC_000019.9:g.1399836C>T , CM000681.1:g.1399836C>T GRCh37
NC_000019.8:g.1350836C>T NCBI36
NG_009785.1:g.6717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.283G>A MANE Select ENSP00000252288.1:p.Val95Ile
ENST00000447102.8:c.283G>A ENSP00000403536.2:p.Val95Ile
ENST00000640762.1:c.214G>A ENSP00000492031.1:p.Val72Ile
ENST00000252288.6:c.283G>A ENSP00000252288.1:p.Val95Ile
ENST00000447102.7:c.283G>A ENSP00000403536.2:p.Val95Ile
NM_000156.5:c.283G>A NP_000147.1:p.Val95Ile
NM_138924.2:c.283G>A NP_620279.1:p.Val95Ile
NM_000156.6:c.283G>A MANE Select NP_000147.1:p.Val95Ile
NM_138924.3:c.283G>A NP_620279.1:p.Val95Ile
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