Canonical Allele Identifier: CA392265812

Gene: GATM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45376785G>T , CM000677.2:g.45376785G>T	GRCh38
NC_000015.9:g.45668983G>T , CM000677.1:g.45668983G>T	GRCh37
NC_000015.8:g.43456275G>T	NCBI36
NG_011674.1:g.6998C>A
NG_011674.2:g.30533C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.104C>A MANE Select	ENSP00000379895.3:p.Thr35Asn
ENST00000674905.1:c.104C>A	ENSP00000502176.1:p.Thr35Asn
ENST00000675158.1:c.104C>A	ENSP00000501737.1:p.Thr35Asn
ENST00000675323.1:c.104C>A	ENSP00000502445.1:p.Thr35Asn
ENST00000675701.1:c.44C>A	ENSP00000502671.1:p.Thr15Asn
ENST00000675974.1:n.195C>A
ENST00000676090.1:c.263C>A	ENSP00000501630.1:p.Thr88Asn
ENST00000396659.7:c.104C>A	ENSP00000379895.3:p.Thr35Asn
ENST00000558118.1:c.104C>A	ENSP00000452971.1:p.Thr35Asn
ENST00000558163.1:c.69+1600C>A	ENSP00000453781.1:n.69+1600C>A
ENST00000558336.5:c.104C>A	ENSP00000454008.1:p.Thr35Asn
ENST00000558362.5:n.1760C>A
ENST00000558537.5:c.-284C>A	ENSP00000453151.1:n.-284C>A
ENST00000559885.1:c.-284C>A	ENSP00000453087.1:n.-284C>A
ENST00000560538.1:n.373C>A
ENST00000561148.5:c.-284C>A	ENSP00000453860.1:n.-284C>A
NM_001482.2:c.104C>A	NP_001473.1:p.Thr35Asn
XM_011521450.1:c.152C>A	XP_011519752.1:p.Thr51Asn
XM_011521451.1:c.146C>A	XP_011519753.1:p.Thr49Asn
NM_001321015.1:c.-284C>A	NP_001307944.1:n.-284C>A
NM_001482.3:c.104C>A MANE Select	NP_001473.1:p.Thr35Asn
NM_001321015.2:c.-284C>A	NP_001307944.1:n.-284C>A