Transcript #00006746

Transcript name galactosidase, alpha
Gene name GLA (galactosidase, alpha)
Chromosome X
Transcript - NCBI ID NM_000169.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000160.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-30G>A r.(=) p.(=)
?/? c.-12G>A r.(=) p.(=)
?/? c.-10C>T r.(=) p.(=)
?/? c.-8C>G r.(=) p.(=)
?/? c.8T>C r.(?) p.(Leu3Pro)
?/? c.48T>G r.(=) p.(=)
?/? c.85G>A r.(?) p.(Ala29Thr)
?/? c.123C>T r.(=) p.(=)
?/? c.129C>T r.(=) p.(=)
?/? c.133C>T r.(=) p.(=)
?/? c.194+17A>G r.(=) p.(=)
?/? c.194+45T>C r.(=) p.(=)
?/? c.195-43T>C r.(=) p.(=)
?/? c.335G>A r.(?) p.(Arg112His)
?/? c.352C>T r.(?) p.(Arg118Cys)
?/? c.353G>A r.(?) p.(Arg118His)
?/? c.376A>G r.(?) p.(Ser126Gly)
?/? c.416A>G r.(?) p.(Asn139Ser)
?/? c.419A>C r.(?) p.(Lys140Thr)
?/? c.427G>A r.(?) p.(Ala143Thr)
?/? c.457G>A r.(?) p.(Asp153Asn)
?/? c.548-50G>A r.(=) p.(=)
?/? c.548-2_548-1insT r.spl? p.?
?/? c.619T>C r.(?) p.(Tyr207His)
?/? c.639+1_639+13del r.spl? p.?
?/? c.639+18G>A r.(=) p.(=)
?/? c.639+54C>T r.(=) p.(=)
?/? c.640-35G>T r.(=) p.(=)
?/? c.640-16A>G r.(=) p.(=)
?/? c.705C>T r.(=) p.(=)
?/? c.755G>C r.(?) p.(Arg252Thr)
?/? c.802-30_802-29del r.(=) p.(=)
?/? c.868A>C r.(?) p.(Met290Leu)
?/? c.902G>T r.(?) p.(Arg301Leu)
?/? c.937G>T r.(?) p.(Asp313Tyr)
?/? c.944A>G r.(?) p.(Asp315Gly)
?/? c.945C>T r.(=) p.(=)
?/? c.946G>A r.(?) p.(Val316Ile)
?/? c.978G>A r.(=) p.(=)
?/? c.984G>T r.(=) p.(=)
?/? c.1000-55_1000-52del r.(=) p.(=)
?/? c.1000-51_1000-50del r.(=) p.(=)
?/? c.1000-22C>T r.(=) p.(=)
?/? c.1093T>A r.(?) p.(Tyr365Asn)
?/? c.1102G>A r.(?) p.(Ala368Thr)
?/? c.1184G>C r.(?) p.(Gly395Ala)
?/? c.1261A>G r.(?) p.(Met421Val)
Legend