Canonical Allele Identifier: CA270169359
Gene: GATM HGNC NCBI
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45369496G>A , CM000677.2:g.45369496G>A GRCh38
NC_000015.9:g.45661694G>A , CM000677.1:g.45661694G>A GRCh37
NC_000015.8:g.43448986G>A NCBI36
NG_011674.1:g.14287C>T
NG_011674.2:g.37822C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396659.8:c.314C>T MANE Select ENSP00000379895.3:p.Pro105Leu
ENST00000674905.1:c.314C>T ENSP00000502176.1:p.Pro105Leu
ENST00000675158.1:c.314C>T ENSP00000501737.1:p.Pro105Leu
ENST00000675323.1:c.314C>T ENSP00000502445.1:p.Pro105Leu
ENST00000675701.1:c.254C>T ENSP00000502671.1:p.Pro85Leu
ENST00000675974.1:n.405C>T
ENST00000676090.1:c.*1045C>T ENSP00000501630.1:n.*1045C>T
ENST00000396659.7:c.314C>T ENSP00000379895.3:p.Pro105Leu
ENST00000558118.1:c.*119C>T ENSP00000452971.1:n.*119C>T
ENST00000558163.1:c.95C>T ENSP00000453781.1:p.Pro32Leu
ENST00000558336.5:c.314C>T ENSP00000454008.1:p.Pro105Leu
ENST00000558362.5:n.1970C>T
ENST00000558537.5:c.-74C>T ENSP00000453151.1:n.-74C>T
ENST00000558916.1:n.212C>T
ENST00000559885.1:c.-74C>T ENSP00000453087.1:n.-74C>T
ENST00000561148.5:c.-74C>T ENSP00000453860.1:n.-74C>T
NM_001482.2:c.314C>T NP_001473.1:p.Pro105Leu
XM_011521450.1:c.362C>T XP_011519752.1:p.Pro121Leu
XM_011521451.1:c.356C>T XP_011519753.1:p.Pro119Leu
NM_001321015.1:c.-74C>T NP_001307944.1:n.-74C>T
NM_001482.3:c.314C>T MANE Select NP_001473.1:p.Pro105Leu
NM_001321015.2:c.-74C>T NP_001307944.1:n.-74C>T