Canonical Allele Identifier: CA10647042
Gene: GATM HGNC NCBI
ClinGen Classification:
Classification Benign
Condition AGAT deficiency
VCEP Cerebral Creatine Deficiency Syndromes VCEP
ClinVar RCV:
RCV000346317
ClinVar Variation:
316206
dbSNP:
1049503
gnomAD v2:
15:45653707 T / C
gnomAD v3:
15:45361509 T / C
gnomAD v4:
chr15-45361509-T-C
Joint Max Group AF 0.81222828 (EAS)
Genomes Max Group AF 0.81126824 (EAS)
Exomes Max Group AF 0.72410581 (EAS)
MyVariant.info:
GRCh38 chr15:g.45361509T>C
GRCh37 chr15:g.45653707T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45361509T>C , CM000677.2:g.45361509T>C GRCh38
NC_000015.9:g.45653707T>C , CM000677.1:g.45653707T>C GRCh37
NC_000015.8:g.43440999T>C NCBI36
NG_011674.1:g.22274A>G
NG_011674.2:g.45809A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.*600A>G MANE Select ENSP00000379895.3:n.*600A>G
ENST00000675158.1:c.*772A>G ENSP00000501737.1:n.*772A>G
ENST00000675323.1:c.*2374A>G ENSP00000502445.1:n.*2374A>G
ENST00000676090.1:c.*2603A>G ENSP00000501630.1:n.*2603A>G
ENST00000396659.7:c.*600A>G ENSP00000379895.3:n.*600A>G
ENST00000558362.5:n.3528A>G
NM_001482.2:c.*600A>G NP_001473.1:n.*600A>G
XM_011521450.1:c.*600A>G XP_011519752.1:n.*600A>G
XM_011521451.1:c.*600A>G XP_011519753.1:n.*600A>G
NM_001321015.1:c.*600A>G NP_001307944.1:n.*600A>G
NM_001482.3:c.*600A>G MANE Select NP_001473.1:n.*600A>G
NM_001321015.2:c.*600A>G NP_001307944.1:n.*600A>G
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