Canonical Allele Identifier: CA2174062742
Community Standard Title: NM_001482.3(GATM):c.484+1G=
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45369325C= , CM000677.2:g.45369325C= GRCh38
NC_000015.9:g.45661523C= , CM000677.1:g.45661523C= GRCh37
NC_000015.8:g.43448815C= NCBI36
NG_011674.1:g.14458G=
NG_011674.2:g.37993G=

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.484+1G= MANE Select NP_001473.1:n.484+1G=
ENST00000396659.8:c.484+1G= MANE Select ENSP00000379895.3:n.484+1G=
NM_001321015.1:c.97+1G= NP_001307944.1:n.97+1G=
NM_001321015.2:c.97+1G= NP_001307944.1:n.97+1G=
NM_001482.2:c.484+1G= NP_001473.1:n.484+1G=
ENST00000396659.7:c.484+1G= ENSP00000379895.3:n.484+1G=
ENST00000558163.1:c.265+1G= ENSP00000453781.1:n.265+1G=
ENST00000558336.5:c.484+1G= ENSP00000454008.1:n.484+1G=
ENST00000558362.5:n.2140+1G=
ENST00000558916.1:n.382+1G=
ENST00000674905.1:c.484+1G= ENSP00000502176.1:n.484+1G=
ENST00000675158.1:c.484+1G= ENSP00000501737.1:n.484+1G=
ENST00000675323.1:c.484+1G= ENSP00000502445.1:n.484+1G=
ENST00000675701.1:c.424+1G= ENSP00000502671.1:n.424+1G=
ENST00000675974.1:n.575+1G=
ENST00000676090.1:c.*1215+1G= ENSP00000501630.1:n.*1215+1G=
XM_011521450.1:c.532+1G= XP_011519752.1:n.532+1G=
XM_011521451.1:c.526+1G= XP_011519753.1:n.526+1G=