Canonical Allele Identifier: CA7542750
Community Standard Title: NM_001482.3(GATM):c.1257G>A (p.Gln419=)
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45362124C>T , CM000677.2:g.45362124C>T GRCh38
NC_000015.9:g.45654322C>T , CM000677.1:g.45654322C>T GRCh37
NC_000015.8:g.43441614C>T NCBI36
NG_011674.1:g.21659G>A
NG_011674.2:g.45194G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.1257G>A MANE Select NP_001473.1:p.Gln419=
ENST00000396659.8:c.1257G>A MANE Select ENSP00000379895.3:p.Gln419=
NM_001321015.1:c.870G>A NP_001307944.1:p.Gln290=
NM_001321015.2:c.870G>A NP_001307944.1:p.Gln290=
NM_001482.2:c.1257G>A NP_001473.1:p.Gln419=
ENST00000396659.7:c.1257G>A ENSP00000379895.3:p.Gln419=
ENST00000558362.5:n.2913G>A
ENST00000674905.1:c.*219G>A ENSP00000502176.1:n.*219G>A
ENST00000675158.1:c.*157G>A ENSP00000501737.1:n.*157G>A
ENST00000675323.1:c.*1759G>A ENSP00000502445.1:n.*1759G>A
ENST00000675701.1:c.1197G>A ENSP00000502671.1:p.Gln399=
ENST00000675974.1:n.3806G>A
ENST00000676090.1:c.*1988G>A ENSP00000501630.1:n.*1988G>A
XM_011521450.1:c.1305G>A XP_011519752.1:p.Gln435=
XM_011521451.1:c.1299G>A XP_011519753.1:p.Gln433=