Canonical Allele Identifier: CA402994362
Gene: GAMT HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1398964C>A
GRCh37 chr19:g.1398963C>A
Revel Score:
ENST00000252288 (MANE Select) 0.813
ENST00000447102 0.813
gnomAD v3:
19:1398964 C / A
gnomAD v4:
chr19-1398964-C-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV002340852
RCV003418468
ClinVar Variation:
1746223
dbSNP:
370421531
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398964C>A , CM000681.2:g.1398964C>A GRCh38
NC_000019.9:g.1398963C>A , CM000681.1:g.1398963C>A GRCh37
NC_000019.8:g.1349963C>A NCBI36
NG_009785.1:g.7590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.522G>T MANE Select ENSP00000252288.1:p.Trp174Cys
ENST00000447102.8:c.522G>T ENSP00000403536.2:p.Trp174Cys
ENST00000591788.3:c.205G>T
ENST00000640164.1:n.355G>T
ENST00000640762.1:c.453G>T ENSP00000492031.1:p.Trp151Cys
ENST00000252288.6:c.522G>T ENSP00000252288.1:p.Trp174Cys
ENST00000447102.7:c.522G>T ENSP00000403536.2:p.Trp174Cys
ENST00000591788.2:c.207G>T ENSP00000466341.2:p.Trp69Cys
NM_000156.5:c.522G>T NP_000147.1:p.Trp174Cys
NM_138924.2:c.522G>T NP_620279.1:p.Trp174Cys
NM_000156.6:c.522G>T MANE Select NP_000147.1:p.Trp174Cys
NM_138924.3:c.522G>T NP_620279.1:p.Trp174Cys
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