Canonical Allele Identifier: CA291037
Gene: GATM HGNC NCBI

Linked Data

ClinVar Variation Id: 137449
ClinVar RCV Id: RCV000125209 RCV000732171 RCV001084172 RCV002312565
dbSNP Id: rs151231277
ExAC: 15:45660274 A / G
gnomAD v2: 15-45660274-A-G
gnomAD v3: 15-45368076-A-G
gnomAD v4: 15-45368076-A-G
MyVariant Identifiers: chr15:g.45660274A>G (hg19) chr15:g.45368076A>G (hg38)
ERepo: CA291037/MONDO:0012996/025
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45368076A>G , CM000677.2:g.45368076A>G GRCh38
NC_000015.9:g.45660274A>G , CM000677.1:g.45660274A>G GRCh37
NC_000015.8:g.43447566A>G NCBI36
NG_011674.1:g.15707T>C
NG_011674.2:g.39242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.669T>C MANE Select ENSP00000379895.3:p.Tyr223=
ENST00000674905.1:c.669T>C ENSP00000502176.1:p.Tyr223=
ENST00000675158.1:c.669T>C ENSP00000501737.1:p.Tyr223=
ENST00000675323.1:c.669T>C ENSP00000502445.1:p.Tyr223=
ENST00000675701.1:c.609T>C ENSP00000502671.1:p.Tyr203=
ENST00000675974.1:n.760T>C
ENST00000676090.1:c.*1400T>C ENSP00000501630.1:n.*1400T>C
ENST00000396659.7:c.669T>C ENSP00000379895.3:p.Tyr223=
ENST00000558163.1:c.450T>C ENSP00000453781.1:p.Tyr150=
ENST00000558336.5:c.669T>C ENSP00000454008.1:p.Tyr223=
ENST00000558362.5:n.2325T>C
ENST00000558916.1:n.567T>C
NM_001482.2:c.669T>C NP_001473.1:p.Tyr223=
XM_011521450.1:c.717T>C XP_011519752.1:p.Tyr239=
XM_011521451.1:c.711T>C XP_011519753.1:p.Tyr237=
NM_001321015.1:c.282T>C NP_001307944.1:p.Tyr94=
NM_001482.3:c.669T>C MANE Select NP_001473.1:p.Tyr223=
NM_001321015.2:c.282T>C NP_001307944.1:p.Tyr94=
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