Transcript #00011723 (NM_005908.3, MANBA gene)

Transcript name mannosidase, beta A, lysosomal
Gene name MANBA (mannosidase, beta A, lysosomal)
Chromosome 4
Transcript - NCBI ID NM_005908.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005899.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.? p.?
?/. - c.106G>A r.(?) p.(Gly36Ser)
-?/. - c.178-8A>G r.(=) p.(=)
-?/. - c.303G>A r.(?) p.(Glu101=)
?/. - c.314C>T r.(?) p.(Thr105Met)
-/. - c.315G>A r.(=) p.(=)
-/. - c.315G>A r.(=) p.(=)
-?/. - c.397G>A r.(?) p.(Val133Met)
-?/. - c.397G>T r.(?) p.(Val133Leu)
-?/. - c.502C>T r.(?) p.(Pro168Ser)
-?/. - c.531T>C r.(?) p.(His177=)
?/. - c.617G>C r.(?) p.(Arg206Thr)
+/. - c.651C>G r.(?) p.(Tyr217Ter)
-?/. - c.728G>C r.(?) p.(Ser243Thr)
-/. - c.757G>A r.(?) p.(Val253Ile)
+/. - c.960+1G>A r.spl? p.?
+/. - c.960+1G>A r.spl? p.?
-?/. - c.961-4G>A r.spl? p.?
?/. - c.1039G>A r.(?) p.(Gly347Arg)
-?/. - c.1113-4A>G r.spl? p.?
-?/. - c.1131G>C r.(?) p.(Gln377His)
?/. - c.1154A>G r.(?) p.(Asn385Ser)
?/. - c.1226T>C r.(?) p.(Ile409Thr)
-?/. - c.1254C>G r.(?) p.(Ala418=)
-?/. - c.1302A>G r.(?) p.(Ala434=)
-?/. - c.1485+9T>C r.(=) p.(=)
?/. - c.1499G>A r.(?) p.(Arg500His)
?/. - c.1499_1501del r.(?) p.(Arg500del)
?/. - c.1499_1501del r.(?) p.(Arg500del)
?/. - c.1499_1501del r.(?) p.(Arg500del)
?/. - c.1649G>A r.(?) p.(Arg550Gln)
?/. - c.1649G>A r.(?) p.(Arg550Gln)
-?/. - c.1846A>C r.(?) p.(Lys616Gln)
?/. - c.1876C>T r.(?) p.(Gln626Ter)
-?/. - c.1908C>T r.(?) p.(Phe636=)
?/. - c.1922G>A r.(?) p.(Arg641His)
-/. - c.2102C>T r.(?) p.(Thr701Met)
-?/. - c.2136G>A r.(?) p.(Ser712=)
-?/. - c.2136G>A r.(?) p.(Ser712=)
-?/. - c.2158-8C>T r.(=) p.(=)
+/. - c.2158-2A>G r.spl? p.?
-?/. - c.2246T>A r.(?) p.(Leu749His)
-?/. - c.2246T>A r.(?) p.(Leu749His)
-?/. - c.2351C>G r.(?) p.(Pro784Arg)
-/. - c.2368T>C r.(?) p.(Leu790=)
-?/. - c.2379G>A r.(?) p.(Pro793=)
?/. - c.2386G>A r.(?) p.(Ala796Thr)
-/. - c.2416-10del r.(=) p.(=)
-?/. - c.2416-10dup r.(=) p.(=)
?/. - c.2471T>A r.(?) p.(Val824Asp)
?/. - c.2473G>T r.(?) p.(Ala825Ser)
?/. - c.2481del r.(?) p.(Phe827LeufsTer6)
-?/. - c.2482G>A r.(?) p.(Val828Ile)
-?/. - c.2482G>A r.(?) p.(Val828Ile)
-/. - c.2482G>A r.(?) p.(Val828Ile)
-?/. - c.*356G>A r.(=) p.(=)
-?/. - c.*356G>A r.(=) p.(=)
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