Canonical Allele Identifier: CA490236761

Gene: GATM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45378445C>T , CM000677.2:g.45378445C>T	GRCh38
NC_000015.9:g.45670643C>T , CM000677.1:g.45670643C>T	GRCh37
NC_000015.8:g.43457935C>T	NCBI36
NG_011674.1:g.5338G>A
NG_011674.2:g.28873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.9G>A MANE Select	ENSP00000379895.3:p.Arg3=
ENST00000674905.1:c.9G>A	ENSP00000502176.1:p.Arg3=
ENST00000675158.1:c.9G>A	ENSP00000501737.1:p.Arg3=
ENST00000675323.1:c.9G>A	ENSP00000502445.1:p.Arg3=
ENST00000675974.1:n.100G>A
ENST00000676090.1:c.168G>A	ENSP00000501630.1:p.Arg56=
ENST00000396659.7:c.9G>A	ENSP00000379895.3:p.Arg3=
ENST00000558118.1:c.9G>A	ENSP00000452971.1:p.Arg3=
ENST00000558163.1:c.9G>A	ENSP00000453781.1:p.Arg3=
ENST00000558336.5:c.9G>A	ENSP00000454008.1:p.Arg3=
ENST00000558362.5:n.100G>A
ENST00000560538.1:n.339-1626G>A
ENST00000561148.5:c.-318-1626G>A	ENSP00000453860.1:n.-318-1626G>A
NM_001482.2:c.9G>A	NP_001473.1:p.Arg3=
XM_011521450.1:c.118-1626G>A	XP_011519752.1:n.118-1626G>A
XM_011521451.1:c.112-1626G>A	XP_011519753.1:n.112-1626G>A
NM_001321015.1:c.-318-1626G>A	NP_001307944.1:n.-318-1626G>A
NM_001482.3:c.9G>A MANE Select	NP_001473.1:p.Arg3=
NM_001321015.2:c.-318-1626G>A	NP_001307944.1:n.-318-1626G>A