Canonical Allele Identifier: CA270169234
Gene: GATM HGNC NCBI

Linked Data

dbSNP Id: rs866895039
MyVariant Identifiers: chr15:g.45661561C>T (hg19) chr15:g.45369363C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45369363C>T , CM000677.2:g.45369363C>T GRCh38
NC_000015.9:g.45661561C>T , CM000677.1:g.45661561C>T GRCh37
NC_000015.8:g.43448853C>T NCBI36
NG_011674.1:g.14420G>A
NG_011674.2:g.37955G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.447G>A MANE Select ENSP00000379895.3:p.Trp149Ter
ENST00000674905.1:c.447G>A ENSP00000502176.1:p.Trp149Ter
ENST00000675158.1:c.447G>A ENSP00000501737.1:p.Trp149Ter
ENST00000675323.1:c.447G>A ENSP00000502445.1:p.Trp149Ter
ENST00000675701.1:c.387G>A ENSP00000502671.1:p.Trp129Ter
ENST00000675974.1:n.538G>A
ENST00000676090.1:c.*1178G>A ENSP00000501630.1:n.*1178G>A
ENST00000396659.7:c.447G>A ENSP00000379895.3:p.Trp149Ter
ENST00000558163.1:c.228G>A ENSP00000453781.1:p.Trp76Ter
ENST00000558336.5:c.447G>A ENSP00000454008.1:p.Trp149Ter
ENST00000558362.5:n.2103G>A
ENST00000558537.5:c.60G>A ENSP00000453151.1:p.Trp20Ter
ENST00000558916.1:n.345G>A
ENST00000561148.5:c.60G>A ENSP00000453860.1:p.Trp20Ter
NM_001482.2:c.447G>A NP_001473.1:p.Trp149Ter
XM_011521450.1:c.495G>A XP_011519752.1:p.Trp165Ter
XM_011521451.1:c.489G>A XP_011519753.1:p.Trp163Ter
NM_001321015.1:c.60G>A NP_001307944.1:p.Trp20Ter
NM_001482.3:c.447G>A MANE Select NP_001473.1:p.Trp149Ter
NM_001321015.2:c.60G>A NP_001307944.1:p.Trp20Ter
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