Canonical Allele Identifier: CA2128370
Gene: GMPPA HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219506032G>A , CM000664.2:g.219506032G>A GRCh38
NC_000002.11:g.220370754G>A , CM000664.1:g.220370754G>A GRCh37
NC_000002.10:g.220078998G>A NCBI36
NG_033833.1:g.12168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341142.8:c.953G>A (GMPPA) ENSP00000340760.3:p.Arg318Gln
ENST00000455657.6:c.*228G>A (GMPPA) ENSP00000392465.3:n.*228G>A
ENST00000496536.2:n.962G>A (GMPPA)
ENST00000622191.2:c.953G>A (GMPPA) ENSP00000478700.2:p.Arg318Gln
ENST00000682058.1:c.*984G>A (GMPPA) ENSP00000507378.1:n.*984G>A
ENST00000682102.1:c.*193G>A (GMPPA) ENSP00000508279.1:n.*193G>A
ENST00000682340.1:n.2586G>A (GMPPA)
ENST00000682435.1:n.1557G>A (GMPPA)
ENST00000682443.1:n.2239G>A (GMPPA)
ENST00000682481.1:c.*1238G>A (GMPPA) ENSP00000507331.1:n.*1238G>A
ENST00000682488.1:c.70-692G>A (GMPPA) ENSP00000507140.1:n.70-692G>A
ENST00000682576.1:c.*1001G>A (GMPPA) ENSP00000508370.1:n.*1001G>A
ENST00000683106.1:n.2350G>A (GMPPA)
ENST00000683131.1:c.*1238G>A (GMPPA) ENSP00000507530.1:n.*1238G>A
ENST00000683241.1:n.1338G>A (GMPPA)
ENST00000683382.1:n.2215G>A (GMPPA)
ENST00000683386.1:c.*583G>A (GMPPA) ENSP00000507844.1:n.*583G>A
ENST00000683402.1:c.*334G>A (GMPPA) ENSP00000507137.1:n.*334G>A
ENST00000683591.1:c.*984G>A (GMPPA) ENSP00000508406.1:n.*984G>A
ENST00000683598.1:c.*984G>A (GMPPA) ENSP00000508168.1:n.*984G>A
ENST00000683617.1:n.2071G>A (GMPPA)
ENST00000683626.1:c.*1597G>A (GMPPA) ENSP00000507216.1:n.*1597G>A
ENST00000683691.1:c.*864G>A (GMPPA) ENSP00000508392.1:n.*864G>A
ENST00000683746.1:n.1903G>A (GMPPA)
ENST00000683752.1:c.602G>A (GMPPA) ENSP00000507197.1:p.Arg201Gln
ENST00000683864.1:c.*1733G>A (GMPPA) ENSP00000507147.1:n.*1733G>A
ENST00000683946.1:c.953G>A (GMPPA) ENSP00000506941.1:p.Arg318Gln
ENST00000684227.1:c.*1004G>A (GMPPA) ENSP00000507190.1:n.*1004G>A
ENST00000684242.1:n.2008G>A (GMPPA)
ENST00000684274.1:n.1323G>A (GMPPA)
ENST00000684334.1:n.2415G>A (GMPPA)
ENST00000684562.1:n.1993G>A (GMPPA)
ENST00000684706.1:n.1017G>A (GMPPA)
ENST00000684729.1:c.*1004G>A (GMPPA) ENSP00000507441.1:n.*1004G>A
ENST00000313597.10:c.953G>A (GMPPA) MANE Select ENSP00000315925.6:p.Arg318Gln
ENST00000313597.9:c.953G>A (GMPPA) ENSP00000315925.5:p.Arg318Gln
ENST00000341142.7:c.953G>A (GMPPA) ENSP00000340760.3:p.Arg318Gln
ENST00000358215.8:c.953G>A (GMPPA) ENSP00000350949.3:p.Arg318Gln
ENST00000373908.5:c.953G>A (GMPPA) ENSP00000363016.1:p.Arg318Gln
ENST00000373917.7:c.1112G>A (GMPPA) ENSP00000363027.3:p.Arg371Gln
ENST00000443704.5:c.*100G>A (GMPPA) ENSP00000396750.1:n.*100G>A
ENST00000480034.1:c.90G>A (GMPPA)
ENST00000481170.1:n.4168G>A (GMPPA)
ENST00000496536.1:n.93G>A (GMPPA)
ENST00000622191.1:c.953G>A (GMPPA) ENSP00000478700.1:p.Arg318Gln
NM_013335.3:c.953G>A (GMPPA) NP_037467.2:p.Arg318Gln
NM_205847.2:c.953G>A (GMPPA) NP_995319.1:p.Arg318Gln
XM_005246483.2:c.968G>A (GMPPA) XP_005246540.1:p.Arg323Gln
XM_005246485.2:c.968G>A (GMPPA) XP_005246542.1:p.Arg323Gln
XM_005246486.2:c.953G>A (GMPPA) XP_005246543.1:p.Arg318Gln
XM_011511032.1:c.968G>A (GMPPA) XP_011509334.1:p.Arg323Gln
XM_011511033.1:c.593G>A (GMPPA) XP_011509335.1:p.Arg198Gln
XM_011511034.1:c.*100G>A (GMPPA) XP_011509336.1:n.*100G>A
XR_241307.2:n.1067G>A (GMPPA)
XR_923921.1:n.352+10664C>T (ASIC4-AS1)
XM_005246486.3:c.953G>A (GMPPA) XP_005246543.1:p.Arg318Gln
XM_024452823.1:c.953G>A (GMPPA) XP_024308591.1:p.Arg318Gln
XR_923921.2:n.391+10664C>T (ASIC4-AS1)
NM_001374294.1:c.953G>A (GMPPA) NP_001361223.1:p.Arg318Gln
NM_001374295.1:c.953G>A (GMPPA) NP_001361224.1:p.Arg318Gln
NM_013335.4:c.953G>A (GMPPA) MANE Select NP_037467.2:p.Arg318Gln
NM_205847.3:c.953G>A (GMPPA) NP_995319.1:p.Arg318Gln