Canonical Allele Identifier: CA314874
Community Standard Title: NM_001482.3(GATM):c.692C>G (p.Ser231Cys)
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45366492G>C , CM000677.2:g.45366492G>C GRCh38
NC_000015.9:g.45658690G>C , CM000677.1:g.45658690G>C GRCh37
NC_000015.8:g.43445982G>C NCBI36
NG_011674.1:g.17291C>G
NG_011674.2:g.40826C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.692C>G MANE Select NP_001473.1:p.Ser231Cys
ENST00000396659.8:c.692C>G MANE Select ENSP00000379895.3:p.Ser231Cys
NM_001321015.1:c.305C>G NP_001307944.1:p.Ser102Cys
NM_001321015.2:c.305C>G NP_001307944.1:p.Ser102Cys
NM_001482.2:c.692C>G NP_001473.1:p.Ser231Cys
ENST00000396659.7:c.692C>G ENSP00000379895.3:p.Ser231Cys
ENST00000558163.1:c.473C>G ENSP00000453781.1:p.Ser158Cys
ENST00000558336.5:c.692C>G ENSP00000454008.1:p.Ser231Cys
ENST00000558362.5:n.2348C>G
ENST00000558916.1:n.590C>G
ENST00000674905.1:c.692C>G ENSP00000502176.1:p.Ser231Cys
ENST00000675158.1:c.692C>G ENSP00000501737.1:p.Ser231Cys
ENST00000675323.1:c.692C>G ENSP00000502445.1:p.Ser231Cys
ENST00000675701.1:c.632C>G ENSP00000502671.1:p.Ser211Cys
ENST00000675974.1:n.783C>G
ENST00000676090.1:c.*1423C>G ENSP00000501630.1:n.*1423C>G
XM_011521450.1:c.740C>G XP_011519752.1:p.Ser247Cys
XM_011521451.1:c.734C>G XP_011519753.1:p.Ser245Cys
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