Canonical Allele Identifier: CA7542986
Community Standard Title: NM_001482.3(GATM):c.156T>A (p.Ala52=)
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45376733A>T , CM000677.2:g.45376733A>T GRCh38
NC_000015.9:g.45668931A>T , CM000677.1:g.45668931A>T GRCh37
NC_000015.8:g.43456223A>T NCBI36
NG_011674.1:g.7050T>A
NG_011674.2:g.30585T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.156T>A MANE Select NP_001473.1:p.Ala52=
ENST00000396659.8:c.156T>A MANE Select ENSP00000379895.3:p.Ala52=
NM_001321015.1:c.-232T>A NP_001307944.1:n.-232T>A
NM_001321015.2:c.-232T>A NP_001307944.1:n.-232T>A
NM_001482.2:c.156T>A NP_001473.1:p.Ala52=
ENST00000396659.7:c.156T>A ENSP00000379895.3:p.Ala52=
ENST00000558118.1:c.156T>A ENSP00000452971.1:p.Ala52=
ENST00000558163.1:c.69+1652T>A ENSP00000453781.1:n.69+1652T>A
ENST00000558336.5:c.156T>A ENSP00000454008.1:p.Ala52=
ENST00000558362.5:n.1812T>A
ENST00000558537.5:c.-232T>A ENSP00000453151.1:n.-232T>A
ENST00000559885.1:c.-232T>A ENSP00000453087.1:n.-232T>A
ENST00000560538.1:n.425T>A
ENST00000561148.5:c.-232T>A ENSP00000453860.1:n.-232T>A
ENST00000674905.1:c.156T>A ENSP00000502176.1:p.Ala52=
ENST00000675158.1:c.156T>A ENSP00000501737.1:p.Ala52=
ENST00000675323.1:c.156T>A ENSP00000502445.1:p.Ala52=
ENST00000675701.1:c.96T>A ENSP00000502671.1:p.Ala32=
ENST00000675974.1:n.247T>A
ENST00000676090.1:c.315T>A ENSP00000501630.1:p.Ala105=
XM_011521450.1:c.204T>A XP_011519752.1:p.Ala68=
XM_011521451.1:c.198T>A XP_011519753.1:p.Ala66=