Canonical Allele Identifier: CA7542807
Community Standard Title: NM_001482.3(GATM):c.985C>G (p.Leu329Val)
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45364854G>C , CM000677.2:g.45364854G>C GRCh38
NC_000015.9:g.45657052G>C , CM000677.1:g.45657052G>C GRCh37
NC_000015.8:g.43444344G>C NCBI36
NG_011674.1:g.18929C>G
NG_011674.2:g.42464C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.985C>G MANE Select NP_001473.1:p.Leu329Val
ENST00000396659.8:c.985C>G MANE Select ENSP00000379895.3:p.Leu329Val
NM_001321015.1:c.598C>G NP_001307944.1:p.Leu200Val
NM_001321015.2:c.598C>G NP_001307944.1:p.Leu200Val
NM_001482.2:c.985C>G NP_001473.1:p.Leu329Val
ENST00000396659.7:c.985C>G ENSP00000379895.3:p.Leu329Val
ENST00000558336.5:c.985C>G ENSP00000454008.1:p.Leu329Val
ENST00000558362.5:n.2641C>G
ENST00000558916.1:n.883C>G
ENST00000561376.1:n.32C>G
ENST00000674905.1:c.985C>G ENSP00000502176.1:p.Leu329Val
ENST00000675158.1:c.985C>G ENSP00000501737.1:p.Leu329Val
ENST00000675323.1:c.985C>G ENSP00000502445.1:p.Leu329Val
ENST00000675701.1:c.925C>G ENSP00000502671.1:p.Leu309Val
ENST00000675974.1:n.1076C>G
ENST00000676090.1:c.*1716C>G ENSP00000501630.1:n.*1716C>G
XM_011521450.1:c.1033C>G XP_011519752.1:p.Leu345Val
XM_011521451.1:c.1027C>G XP_011519753.1:p.Leu343Val
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