Canonical Allele Identifier: CA341869
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 21299
ClinVar RCV Id: RCV000020462
dbSNP Id: rs80338738
gnomAD v2: 15-45661523-C-A
gnomAD v4: 15-45369325-C-A
MyVariant Identifiers: chr15:g.45661523C>A (hg19) chr15:g.45369325C>A (hg38)
ERepo: CA341869/MONDO:0012996/025
PubMed: PMID:20301745 PMID:22386973
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45369325C>A , CM000677.2:g.45369325C>A GRCh38
NC_000015.9:g.45661523C>A , CM000677.1:g.45661523C>A GRCh37
NC_000015.8:g.43448815C>A NCBI36
NG_011674.1:g.14458G>T
NG_011674.2:g.37993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.484+1G>T MANE Select ENSP00000379895.3:n.484+1G>T
ENST00000674905.1:c.484+1G>T ENSP00000502176.1:n.484+1G>T
ENST00000675158.1:c.484+1G>T ENSP00000501737.1:n.484+1G>T
ENST00000675323.1:c.484+1G>T ENSP00000502445.1:n.484+1G>T
ENST00000675701.1:c.424+1G>T ENSP00000502671.1:n.424+1G>T
ENST00000675974.1:n.575+1G>T
ENST00000676090.1:c.*1215+1G>T ENSP00000501630.1:n.*1215+1G>T
ENST00000396659.7:c.484+1G>T ENSP00000379895.3:n.484+1G>T
ENST00000558163.1:c.265+1G>T ENSP00000453781.1:n.265+1G>T
ENST00000558336.5:c.484+1G>T ENSP00000454008.1:n.484+1G>T
ENST00000558362.5:n.2140+1G>T
ENST00000558916.1:n.382+1G>T
NM_001482.2:c.484+1G>T NP_001473.1:n.484+1G>T
XM_011521450.1:c.532+1G>T XP_011519752.1:n.532+1G>T
XM_011521451.1:c.526+1G>T XP_011519753.1:n.526+1G>T
NM_001321015.1:c.97+1G>T NP_001307944.1:n.97+1G>T
NM_001482.3:c.484+1G>T MANE Select NP_001473.1:n.484+1G>T
NM_001321015.2:c.97+1G>T NP_001307944.1:n.97+1G>T
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