Canonical Allele Identifier: CA263244
Community Standard Title: NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)
Gene: GATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45368137T>G , CM000677.2:g.45368137T>G GRCh38
NC_000015.9:g.45660335T>G , CM000677.1:g.45660335T>G GRCh37
NC_000015.8:g.43447627T>G NCBI36
NG_011674.1:g.15646A>C
NG_011674.2:g.39181A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.608A>C MANE Select NP_001473.1:p.Tyr203Ser
ENST00000396659.8:c.608A>C MANE Select ENSP00000379895.3:p.Tyr203Ser
NM_001321015.1:c.221A>C NP_001307944.1:p.Tyr74Ser
NM_001321015.2:c.221A>C NP_001307944.1:p.Tyr74Ser
NM_001482.2:c.608A>C NP_001473.1:p.Tyr203Ser
ENST00000396659.7:c.608A>C ENSP00000379895.3:p.Tyr203Ser
ENST00000558163.1:c.389A>C ENSP00000453781.1:p.Tyr130Ser
ENST00000558336.5:c.608A>C ENSP00000454008.1:p.Tyr203Ser
ENST00000558362.5:n.2264A>C
ENST00000558916.1:n.506A>C
ENST00000674905.1:c.608A>C ENSP00000502176.1:p.Tyr203Ser
ENST00000675158.1:c.608A>C ENSP00000501737.1:p.Tyr203Ser
ENST00000675323.1:c.608A>C ENSP00000502445.1:p.Tyr203Ser
ENST00000675701.1:c.548A>C ENSP00000502671.1:p.Tyr183Ser
ENST00000675974.1:n.699A>C
ENST00000676090.1:c.*1339A>C ENSP00000501630.1:n.*1339A>C
XM_011521450.1:c.656A>C XP_011519752.1:p.Tyr219Ser
XM_011521451.1:c.650A>C XP_011519753.1:p.Tyr217Ser