Canonical Allele Identifier: CA10647042
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 316206
ClinVar RCV Id: RCV000346317
dbSNP Id: rs1049503
gnomAD v2: 15-45653707-T-C
gnomAD v3: 15-45361509-T-C
gnomAD v4: 15-45361509-T-C
MyVariant Identifiers: chr15:g.45653707T>C (hg19) chr15:g.45361509T>C (hg38)
ERepo: CA10647042/MONDO:0012996/025
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
Search 100 bp 5'
Search 100 bp 3'