Transcript #00000053 (NM_152419.2, HGSNAT gene)

Transcript name heparan-alpha-glucosaminide N-acetyltransferase
Gene name HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)
Chromosome 8
Transcript - NCBI ID NM_152419.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_689632.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

319 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1 c.1-1925_118+296del r.0? p.0?
+/. 1 c.1-1925_118+296del r.0? p.0?
-?/. - c.63G>A r.(?) p.(Ala21=)
-?/. - c.73C>G r.(?) p.(Pro25Ala)
-?/. - c.108G>A r.(?) p.(Ala36=)
-/. - c.108G>A r.(?) p.(Ala36=)
+/. 1i c.118+1G>A r.spl? p.?
-?/. - c.118+10C>A r.(=) p.(=)
+?/. 2 c.164T>A r.(?) p.(Leu55*)
+?/. 2 c.164T>A r.(?) p.(Leu55*)
+?/. 2 c.164T>A r.(?) p.(Leu55*)
?/. - c.205G>A r.(?) p.(Val69Ile)
+/+ 2 c.227G>T r.(?) p.(Cys76Phe)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. - c.234+1G>A r.spl? p.?
+?/. - c.234+1G>A r.spl p.?
+/. - c.234+1G>A r.spl? p.?
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19)
?/. - c.259G>A r.(?) p.(Val87Ile)
+?/. - c.259G>T r.(?) p.(Val87Phe)
?/. - c.259G>T r.(?) p.(Val87Phe)
-?/. - c.342C>T r.(?) p.(Asn114=)
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp)
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp)
+/. - c.370A>T r.(?) p.(Arg124Trp)
+/. - c.370A>T r.spl p.(Cys79Valfs*20)
+/. 3i c.372-2A>G r.spl p.?
+?/. 3i c.372-2A>G r.(?) p.(?)
+/. - c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)]
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)]
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)]
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)]
+?/. - c.398G>C r.(?) p.(Gly133Ala)
+/+ 4 c.410T>C r.(?) p.(Leu137Pro)
+/+ 4 c.410T>C r.(?) p.(Leu137Pro)
+?/. - c.410T>C r.(?) p.(Leu137Pro)
-/. - c.468C>T r.(?) p.(Asn156=)
-?/. - c.479T>C r.(?) p.(Val160Ala)
?/. - c.493C>T r.(?) p.(Pro165Ser)
+/. 4i c.493+1G>A r.spl p.?
+/. 4i c.493+1G>A r.spl p.?
+/. 4i c.493+1G>A r.spl p.?
+/. 4i c.493+1G>A r.spl p.?
+/. 4i c.493+1G>A r.spl p.?
?/. - c.493+5G>A r.spl? p.?
?/. - c.493+5G>A r.spl? p.?
+/. 4i c.493+5G>A r.372_493del p.(Arg124Serfs*25)
+/. 4i c.494-1G>A r.spl p.[(P165_L187delinsQSCYVTQAGVRWHHLGSLQALPPGFTPFSYLSLLSSWNC,P165fs)]
+/. 5 c.518G>A r.(?) p.(Gly173Asp)
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16)
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16)
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16)
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16)
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16)
+?/. 5 c.525dup r.(?) p.(Val176Cysfs*16)
+?/. 5 c.525dup r.(?) p.(Val176Cysfs*16)
-/. - c.564-98T>C r.(=) p.(=)
-/. - c.564-98T>C r.(=) p.(=)
-/. - c.564-98T>C r.(=) p.(=)
+/. - c.582delinsCCC r.(?) p.(Trp195ProfsTer7)
+/. - c.607C>T r.(?) p.(Arg203Ter)
+/. 6 c.607C>T r.(?) p.(Arg203*)
+/. 6i_8i c.634-408_820+338delinsAGAATATG r.(634_820del) p.(Glu212Glyfs*2)
+/. 7 c.641delG r.(?) p.?
?/. - c.652A>G r.(?) p.(Arg218Gly)
+/. 7 c.682_740del r.(?) p.(Pro228GlyfsTer32)
-?/. - c.688A>G r.(?) p.(Thr230Ala)
-?/. - c.688A>G r.(?) p.(Thr230Ala)
?/. - c.689C>T r.(?) p.(Thr230Met)
?/- 7 c.710C>A r.(?) p.(Pro237Gln)
?/- 7 c.710C>A r.(?) p.(Pro237Gln)
?/- 7 c.710C>A r.(?) p.(Pro237Gln)
?/- 7 c.710C>A r.(?) p.(Pro237Gln)
?/. - c.710C>A r.(?) p.(Pro237Gln)
?/. - c.710C>A r.(?) p.(Pro237Gln)
?/. - c.710C>A r.(?) p.(Pro237Gln)
+?/. - c.710C>A r.(?) p.(Pro237Gln)
?/. - c.728T>C r.(?) p.(Val243Ala)
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29)
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29)
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29)
+/. 7i c.743+1del r.spl? p.?
+/. - c.743+1dup r.spl? p.?
+/. 7i c.743+1dup r.spl p.(Ile249AspfsTer31)
+/. 7i c.744-2A>G r.spl p.?
-/. - c.765C>T r.(?) p.(Val255=)
+/. 8 c.773A>T r.(?) p.(Asn258Ile)
+/. 8 c.773A>T r.(?) p.(Asn258Ile)
+/. 8 c.773A>T r.(?) p.(Asn258Ile)
+/. 8 c.773A>T r.(?) p.(Asn258Ile)
+/. 8 c.773A>T r.(?) p.(Asn258Ile)
-/. - c.780A>C r.(?) p.(Gly260=)
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