Canonical Allele Identifier: CA66016309
Community Standard Title: NM_013335.4(GMPPA):c.994-70A>G
Gene: GMPPA HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219506184A>G , CM000664.2:g.219506184A>G GRCh38
NC_000002.11:g.220370906A>G , CM000664.1:g.220370906A>G GRCh37
NC_000002.10:g.220079150A>G NCBI36
NG_033833.1:g.12320A>G

Transcript Alleles

HGVS Amino-acid Change
NM_013335.4:c.994-70A>G (GMPPA) MANE Select NP_037467.2:n.994-70A>G
ENST00000313597.10:c.994-70A>G (GMPPA) MANE Select ENSP00000315925.6:n.994-70A>G
NM_001374294.1:c.994-70A>G (GMPPA) NP_001361223.1:n.994-70A>G
NM_001374295.1:c.994-70A>G (GMPPA) NP_001361224.1:n.994-70A>G
NM_013335.3:c.994-70A>G (GMPPA) NP_037467.2:n.994-70A>G
NM_205847.2:c.994-70A>G (GMPPA) NP_995319.1:n.994-70A>G
NM_205847.3:c.994-70A>G (GMPPA) NP_995319.1:n.994-70A>G
ENST00000313597.9:c.994-70A>G (GMPPA) ENSP00000315925.5:n.994-70A>G
ENST00000341142.7:c.994-70A>G (GMPPA) ENSP00000340760.3:n.994-70A>G
ENST00000341142.8:c.994-70A>G (GMPPA) ENSP00000340760.3:n.994-70A>G
ENST00000358215.8:c.994-70A>G (GMPPA) ENSP00000350949.3:n.994-70A>G
ENST00000373908.5:c.994-70A>G (GMPPA) ENSP00000363016.1:n.994-70A>G
ENST00000373917.7:c.1153-70A>G (GMPPA) ENSP00000363027.3:n.1153-70A>G
ENST00000443704.5:c.*141-70A>G (GMPPA) ENSP00000396750.1:n.*141-70A>G
ENST00000455657.6:c.*269-70A>G (GMPPA) ENSP00000392465.3:n.*269-70A>G
ENST00000480034.1:c.131-70A>G (GMPPA)
ENST00000481170.1:n.4209-70A>G (GMPPA)
ENST00000496536.1:n.134-70A>G (GMPPA)
ENST00000496536.2:n.1003-70A>G (GMPPA)
ENST00000622191.1:c.994-70A>G (GMPPA) ENSP00000478700.1:n.994-70A>G
ENST00000622191.2:c.994-70A>G (GMPPA) ENSP00000478700.2:n.994-70A>G
ENST00000682058.1:c.*1025-70A>G (GMPPA) ENSP00000507378.1:n.*1025-70A>G
ENST00000682102.1:c.*234-70A>G (GMPPA) ENSP00000508279.1:n.*234-70A>G
ENST00000682340.1:n.2627-70A>G (GMPPA)
ENST00000682435.1:n.1598-70A>G (GMPPA)
ENST00000682443.1:n.2280-70A>G (GMPPA)
ENST00000682481.1:c.*1279-70A>G (GMPPA) ENSP00000507331.1:n.*1279-70A>G
ENST00000682488.1:c.70-540A>G (GMPPA) ENSP00000507140.1:n.70-540A>G
ENST00000682576.1:c.*1042-70A>G (GMPPA) ENSP00000508370.1:n.*1042-70A>G
ENST00000683106.1:n.2391-70A>G (GMPPA)
ENST00000683131.1:c.*1279-70A>G (GMPPA) ENSP00000507530.1:n.*1279-70A>G
ENST00000683241.1:n.1379-70A>G (GMPPA)
ENST00000683382.1:n.2256-70A>G (GMPPA)
ENST00000683386.1:c.*624-70A>G (GMPPA) ENSP00000507844.1:n.*624-70A>G
ENST00000683402.1:c.*375-70A>G (GMPPA) ENSP00000507137.1:n.*375-70A>G
ENST00000683591.1:c.*1025-70A>G (GMPPA) ENSP00000508406.1:n.*1025-70A>G
ENST00000683598.1:c.*1025-70A>G (GMPPA) ENSP00000508168.1:n.*1025-70A>G
ENST00000683617.1:n.2112-70A>G (GMPPA)
ENST00000683626.1:c.*1638-70A>G (GMPPA) ENSP00000507216.1:n.*1638-70A>G
ENST00000683691.1:c.*905-70A>G (GMPPA) ENSP00000508392.1:n.*905-70A>G
ENST00000683746.1:n.1944-70A>G (GMPPA)
ENST00000683752.1:c.643-70A>G (GMPPA) ENSP00000507197.1:n.643-70A>G
ENST00000683864.1:c.*1774-70A>G (GMPPA) ENSP00000507147.1:n.*1774-70A>G
ENST00000683946.1:c.994-70A>G (GMPPA) ENSP00000506941.1:n.994-70A>G
ENST00000684227.1:c.*1045-70A>G (GMPPA) ENSP00000507190.1:n.*1045-70A>G
ENST00000684242.1:n.2049-70A>G (GMPPA)
ENST00000684274.1:n.1364-70A>G (GMPPA)
ENST00000684334.1:n.2456-70A>G (GMPPA)
ENST00000684562.1:n.2034-70A>G (GMPPA)
ENST00000684706.1:n.1058-70A>G (GMPPA)
ENST00000684729.1:c.*1045-70A>G (GMPPA) ENSP00000507441.1:n.*1045-70A>G
XM_005246483.2:c.1009-70A>G (GMPPA) XP_005246540.1:n.1009-70A>G
XM_005246485.2:c.1009-70A>G (GMPPA) XP_005246542.1:n.1009-70A>G
XM_005246486.2:c.994-70A>G (GMPPA) XP_005246543.1:n.994-70A>G
XM_005246486.3:c.994-70A>G (GMPPA) XP_005246543.1:n.994-70A>G
XM_011511032.1:c.1009-70A>G (GMPPA) XP_011509334.1:n.1009-70A>G
XM_011511033.1:c.634-70A>G (GMPPA) XP_011509335.1:n.634-70A>G
XM_024452823.1:c.994-70A>G (GMPPA) XP_024308591.1:n.994-70A>G
XR_241307.2:n.1108-70A>G (GMPPA)
XR_923921.1:n.352+10512T>C (ASIC4-AS1)
XR_923921.2:n.391+10512T>C (ASIC4-AS1)