Canonical Allele Identifier: CA7542898
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 225915
ClinVar RCV Id: RCV000488885 RCV000810963 RCV002494552
dbSNP Id: rs377578020
ExAC: 15:45660378 G / A
gnomAD v2: 15-45660378-G-A
gnomAD v3: 15-45368180-G-A
gnomAD v4: 15-45368180-G-A
COSMIC: COSM244666
MyVariant Identifiers: chr15:g.45660378G>A (hg19) chr15:g.45368180G>A (hg38)
ERepo: CA7542898/MONDO:0012996/025
PubMed: PMID:27233232
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45368180G>A , CM000677.2:g.45368180G>A GRCh38
NC_000015.9:g.45660378G>A , CM000677.1:g.45660378G>A GRCh37
NC_000015.8:g.43447670G>A NCBI36
NG_011674.1:g.15603C>T
NG_011674.2:g.39138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.565C>T MANE Select ENSP00000379895.3:p.Arg189Cys
ENST00000674905.1:c.565C>T ENSP00000502176.1:p.Arg189Cys
ENST00000675158.1:c.565C>T ENSP00000501737.1:p.Arg189Cys
ENST00000675323.1:c.565C>T ENSP00000502445.1:p.Arg189Cys
ENST00000675701.1:c.505C>T ENSP00000502671.1:p.Arg169Cys
ENST00000675974.1:n.656C>T
ENST00000676090.1:c.*1296C>T ENSP00000501630.1:n.*1296C>T
ENST00000396659.7:c.565C>T ENSP00000379895.3:p.Arg189Cys
ENST00000558163.1:c.346C>T ENSP00000453781.1:p.Arg116Cys
ENST00000558336.5:c.565C>T ENSP00000454008.1:p.Arg189Cys
ENST00000558362.5:n.2221C>T
ENST00000558916.1:n.463C>T
NM_001482.2:c.565C>T NP_001473.1:p.Arg189Cys
XM_011521450.1:c.613C>T XP_011519752.1:p.Arg205Cys
XM_011521451.1:c.607C>T XP_011519753.1:p.Arg203Cys
NM_001321015.1:c.178C>T NP_001307944.1:p.Arg60Cys
NM_001482.3:c.565C>T MANE Select NP_001473.1:p.Arg189Cys
NM_001321015.2:c.178C>T NP_001307944.1:p.Arg60Cys
Search 100 bp 5'
Search 100 bp 3'