Canonical Allele Identifier: CA263242
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 55919
ClinVar RCV Id: RCV000049332 RCV002490622
dbSNP Id: rs397514708
ExAC: 15:45660438 G / A
gnomAD v2: 15-45660438-G-A
gnomAD v3: 15-45368240-G-A
gnomAD v4: 15-45368240-G-A
MyVariant Identifiers: chr15:g.45660438G>A (hg19) chr15:g.45368240G>A (hg38)
PubMed: PMID:20625172 PMID:23660394
ERepo: CA263242/MONDO:0012996/025
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45368240G>A , CM000677.2:g.45368240G>A GRCh38
NC_000015.9:g.45660438G>A , CM000677.1:g.45660438G>A GRCh37
NC_000015.8:g.43447730G>A NCBI36
NG_011674.1:g.15543C>T
NG_011674.2:g.39078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.505C>T MANE Select ENSP00000379895.3:p.Arg169Ter
ENST00000674905.1:c.505C>T ENSP00000502176.1:p.Arg169Ter
ENST00000675158.1:c.505C>T ENSP00000501737.1:p.Arg169Ter
ENST00000675323.1:c.505C>T ENSP00000502445.1:p.Arg169Ter
ENST00000675701.1:c.445C>T ENSP00000502671.1:p.Arg149Ter
ENST00000675974.1:n.596C>T
ENST00000676090.1:c.*1236C>T ENSP00000501630.1:n.*1236C>T
ENST00000396659.7:c.505C>T ENSP00000379895.3:p.Arg169Ter
ENST00000558163.1:c.286C>T ENSP00000453781.1:p.Arg96Ter
ENST00000558336.5:c.505C>T ENSP00000454008.1:p.Arg169Ter
ENST00000558362.5:n.2161C>T
ENST00000558916.1:n.403C>T
NM_001482.2:c.505C>T NP_001473.1:p.Arg169Ter
XM_011521450.1:c.553C>T XP_011519752.1:p.Arg185Ter
XM_011521451.1:c.547C>T XP_011519753.1:p.Arg183Ter
NM_001321015.1:c.118C>T NP_001307944.1:p.Arg40Ter
NM_001482.3:c.505C>T MANE Select NP_001473.1:p.Arg169Ter
NM_001321015.2:c.118C>T NP_001307944.1:p.Arg40Ter
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