Transcript #00000003 (NM_000027.3, AGA gene)

Transcript name aspartylglucosaminidase, transcript variant 1
Gene name AGA (aspartylglucosaminidase)
Chromosome 4
Transcript - NCBI ID NM_000027.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000018.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

72 entries on 1 page. Showing entries 1 - 72.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.10A>C r.(?) p.(Lys4Gln)
?/. - c.18C>A r.(?) p.(Asn6Lys)
-?/. - c.24T>C r.(?) p.(Pro8=)
-?/. - c.34G>T r.(?) p.(Val12Leu)
+/+ 1 c.34G>T r.(34g>u) p.(Val12Leu)
+/+ 1 c.44T>G r.(44u>g) p.(Leu15Arg)
+/+ 1 c.102_108del r.102_108delgcccuuu p.Trp34*
+/+ 1i c.127_127+1insATGCGG r.spl p.?
-/. - c.127+25C>T r.(=) p.(=)
+?/. - c.179G>A r.(?) p.(Gly60Asp)
+/+ 2 c.179G>A r.179g>a p.Gly60Asp
+/+ 2 c.192T>A r.192u>a p.Cys64*
-?/. - c.197G>C r.(?) p.(Arg66Thr)
+/. - c.200_201del r.(?) p.(Glu67AlafsTer3)
+/+ 2 c.200_201del r.200_201delag p.Glu67Alafs*3
+/+ 2 c.214T>C r.214u>c p.Ser72Pro
-/. - c.281+13T>G r.(=) p.(=)
-/. - c.281+13T>G r.(=) p.(=)
+/+ 3 c.299G>A r.(299g>a) p.(Gly100Glu)
+?/. - c.302C>T r.(?) p.(Ala101Val)
+?/. - c.302C>T r.(?) p.(Ala101Val)
+/+ 3 c.302C>T r.302c>u p.Ala101Val
-?/. - c.303A>T r.(?) p.(Ala101=)
-?/. - c.313C>A r.(?) p.(Leu105Ile)
-/. - c.313C>A r.(?) p.(Leu105Ile)
+/. - c.319C>T r.(?) p.(Arg107Ter)
+?/. - c.336del r.(?) p.(Ile112MetfsTer16)
+/. - c.336del r.(?) p.(Ile112MetfsTer16)
+/+ 3 c.336del r.336del p.Ile112Metfs*16
+/+? 3 c.346C>T r.(346c>u) p.(Arg116Trp)
+/+ 3 c.369_373del r.369_373del p.His124Thrfs*19
+/+ 3 c.373_376del r.(373_376del) p.(Thr125Phefs*2)
?/. - c.376C>G r.(?) p.(Leu126Val)
+?/. 3 c.392C>T r.(?) p.(Ser131Leu)
+/+ 3i c.395-8A>G r.394_395insucuccag p.(Ala132ValfsTer15)
+/+ 4 c.404T>C r.(404u>c) p.(Phe135Ser)
-?/. - c.428A>G r.(?) p.(Asn143Ser)
?/. - c.436T>G r.(?) p.(Leu146Val)
+/+? 4 c.439T>C r.(439u>c) p.(Ser147Pro)
-/. - c.446C>G r.(?) p.(Thr149Ser)
-/. - c.446C>G r.(?) p.(Thr149Ser)
-?/. - c.481C>T r.(?) p.(Arg161Trp)
-?/. - c.482G>A r.(?) p.(Arg161Gln)
?/? 4 c.482G>A r.482g>a p.Arg161Gln
?/. - c.482G>A r.(?) p.(Arg161Gln)
+/. - c.488G>C r.(?) p.(Cys163Ser)
?/. - c.488G>C r.(?) p.(Cys163Ser)
+/+ 4 c.488G>C r.488g>c p.Cys163Ser
+/+ 4 c.503G>A r.(503g>a) p.(Trp168*)
+?/. - c.503G>A r.(?) p.(Trp168*)
-?/. - c.622+13T>C r.(=) p.(=)
-?/. - c.623-7C>T r.(=) p.(=)
-?/. - c.623-7C>T r.(=) p.(=)
-?/. - c.645A>G r.(?) p.(Thr215=)
-?/. - c.645A>G r.(?) p.(Thr215=)
+/+ 6 c.677G>A r.[677g>a, del751_826] p.[Gly226Asp, p.Ala251*]
-/. - c.699-25G>C r.(=) p.(=)
+/+ 7 c.754G>C r.(754g>c) p.(Gly252Arg)
+/+ 7 c.755G>A r.(755g>a) p.(Gly252Glu)
-?/. - c.762C>T r.(?) p.(Ala254=)
-?/. - c.762C>T r.(?) p.(Ala254=)
+/+ 7 c.770C>T r.(770c>u) p.(Thr257Ile)
+/+ 7 c.788del r.788delu p.Leu263*
?/. - c.794G>A r.(?) p.(Arg265His)
+/+ 7 c.800dup r.800dupu p.Pro268Alafs*52
+/+ 8 c.904G>A r.904g>a p.Gly302Arg
+/+ 8 c.916T>C r.916u>c p.Cys306Arg
+/+ 8i c.940+1G>T r.[=, 935_1068del] p.[=, 935_*27del]
+/+ 8i c.941-148_*1920del r.spl p.?
-?/. - c.1000G>A r.(?) p.(Glu334Lys)
+?/+? 9 c.1000G>T r.(1000g>u) p.(Glu334*)
-?/. - c.1023A>G r.(?) p.(Glu341=)
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