UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1002024G>A | CA355962375 | IDUA | c.835G>A (p.Val279Ile) n.891G>A c.652G>A (p.Val218Ile) c.439G>A (p.Val147Ile) n.835G>A n.923G>A c.794G>A (p.Arg265His) c.694G>A (p.Val232Ile) c.628G>A (p.Val210Ile) c.547G>A (p.Val183Ile) n.904G>A c.-126G>A (n.-126G>A) | dbSNP gnomAD v4 |
| 4 | g.1002024G>C | CA355962376 | IDUA | c.835G>C (p.Val279Leu) n.891G>C c.652G>C (p.Val218Leu) c.439G>C (p.Val147Leu) n.835G>C n.923G>C c.794G>C (p.Arg265Pro) c.694G>C (p.Val232Leu) c.628G>C (p.Val210Leu) c.547G>C (p.Val183Leu) n.904G>C c.-126G>C (n.-126G>C) | |
| 4 | g.1002024G= | CA1433068512 | IDUA | c.835G= (p.Val279=) n.891G= c.652G= (p.Val218=) c.439G= (p.Val147=) n.835G= n.923G= c.794G= (p.Arg265=) c.694G= (p.Val232=) c.628G= (p.Val210=) c.547G= (p.Val183=) n.904G= c.-126G= (n.-126G=) | |
| 4 | g.1002024G>T | CA355962377 | IDUA | c.835G>T (p.Val279Phe) n.891G>T c.652G>T (p.Val218Phe) c.439G>T (p.Val147Phe) n.835G>T n.923G>T c.794G>T (p.Arg265Leu) c.694G>T (p.Val232Phe) c.628G>T (p.Val210Phe) c.547G>T (p.Val183Phe) n.904G>T c.-126G>T (n.-126G>T) | gnomAD v4 |
| 4 | g.1002025T>A | CA355962379 | IDUA | c.836T>A (p.Val279Asp) n.892T>A c.653T>A (p.Val218Asp) c.440T>A (p.Val147Asp) n.836T>A n.924T>A c.795T>A (p.Arg265=) c.695T>A (p.Val232Asp) c.629T>A (p.Val210Asp) c.548T>A (p.Val183Asp) n.905T>A c.-125T>A (n.-125T>A) | |
| 4 | g.1002025T>C | CA355962380 | IDUA | c.836T>C (p.Val279Ala) n.892T>C c.653T>C (p.Val218Ala) c.440T>C (p.Val147Ala) n.836T>C n.924T>C c.795T>C (p.Arg265=) c.695T>C (p.Val232Ala) c.629T>C (p.Val210Ala) c.548T>C (p.Val183Ala) n.905T>C c.-125T>C (n.-125T>C) | |
| 4 | g.1002025T>G | CA355962378 | IDUA | c.836T>G (p.Val279Gly) n.892T>G c.653T>G (p.Val218Gly) c.440T>G (p.Val147Gly) n.836T>G n.924T>G c.795T>G (p.Arg265=) c.695T>G (p.Val232Gly) c.629T>G (p.Val210Gly) c.548T>G (p.Val183Gly) n.905T>G c.-125T>G (n.-125T>G) | |
| 4 | g.1002026C>A | CA438057453 | IDUA | c.837C>A (p.Val279=) n.893C>A c.654C>A (p.Val218=) c.441C>A (p.Val147=) n.837C>A n.925C>A c.796C>A (p.Arg266Ser) c.696C>A (p.Val232=) c.630C>A (p.Val210=) c.549C>A (p.Val183=) n.906C>A c.-124C>A (n.-124C>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1002026C= | CA1433068516 | IDUA | c.837C= (p.Val279=) n.893C= c.654C= (p.Val218=) c.441C= (p.Val147=) n.837C= n.925C= c.796C= (p.Arg266=) c.696C= (p.Val232=) c.630C= (p.Val210=) c.549C= (p.Val183=) n.906C= c.-124C= (n.-124C=) | |
| 4 | g.1002026C>G | CA438057454 | IDUA | c.837C>G (p.Val279=) n.893C>G c.654C>G (p.Val218=) c.441C>G (p.Val147=) n.837C>G n.925C>G c.796C>G (p.Arg266Gly) c.696C>G (p.Val232=) c.630C>G (p.Val210=) c.549C>G (p.Val183=) n.906C>G c.-124C>G (n.-124C>G) | dbSNP |
| 4 | g.1002026C>T | CA2802106 | IDUA | c.837C>T (p.Val279=) n.893C>T c.654C>T (p.Val218=) c.441C>T (p.Val147=) n.837C>T n.925C>T c.796C>T (p.Arg266Cys) c.696C>T (p.Val232=) c.630C>T (p.Val210=) c.549C>T (p.Val183=) n.906C>T c.-124C>T (n.-124C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1002027G>A | CA355962381 | IDUA | c.838G>A (p.Ala280Thr) n.894G>A c.655G>A (p.Ala219Thr) c.442G>A (p.Ala148Thr) n.838G>A n.926G>A c.797G>A (p.Arg266His) c.697G>A (p.Ala233Thr) c.631G>A (p.Ala211Thr) c.550G>A (p.Ala184Thr) n.907G>A c.-123G>A (n.-123G>A) | gnomAD v4 COSMIC COSMIC |
| 4 | g.1002027G>C | CA355962382 | IDUA | c.838G>C (p.Ala280Pro) n.894G>C c.655G>C (p.Ala219Pro) c.442G>C (p.Ala148Pro) n.838G>C n.926G>C c.797G>C (p.Arg266Pro) c.697G>C (p.Ala233Pro) c.631G>C (p.Ala211Pro) c.550G>C (p.Ala184Pro) n.907G>C c.-123G>C (n.-123G>C) | |
| 4 | g.1002027G= | CA1433068519 | IDUA | c.838G= (p.Ala280=) n.894G= c.655G= (p.Ala219=) c.442G= (p.Ala148=) n.838G= n.926G= c.797G= (p.Arg266=) c.697G= (p.Ala233=) c.631G= (p.Ala211=) c.550G= (p.Ala184=) n.907G= c.-123G= (n.-123G=) | |
| 4 | g.1002027G>T | CA355962383 | IDUA | c.838G>T (p.Ala280Ser) n.894G>T c.655G>T (p.Ala219Ser) c.442G>T (p.Ala148Ser) n.838G>T n.926G>T c.797G>T (p.Arg266Leu) c.697G>T (p.Ala233Ser) c.631G>T (p.Ala211Ser) c.550G>T (p.Ala184Ser) n.907G>T c.-123G>T (n.-123G>T) | dbSNP gnomAD v4 |
| 4 | g.1002028C>A | CA355962384 | IDUA | c.839C>A (p.Ala280Glu) n.895C>A c.656C>A (p.Ala219Glu) c.443C>A (p.Ala148Glu) n.839C>A n.927C>A c.798C>A (p.Arg266=) c.698C>A (p.Ala233Glu) c.632C>A (p.Ala211Glu) c.551C>A (p.Ala184Glu) n.908C>A c.-122C>A (n.-122C>A) | gnomAD v4 |
| 4 | g.1002028C= | CA1433068522 | IDUA | c.839C= (p.Ala280=) n.895C= c.656C= (p.Ala219=) c.443C= (p.Ala148=) n.839C= n.927C= c.798C= (p.Arg266=) c.698C= (p.Ala233=) c.632C= (p.Ala211=) c.551C= (p.Ala184=) n.908C= c.-122C= (n.-122C=) | |
| 4 | g.1002028C>G | CA355962385 | IDUA | c.839C>G (p.Ala280Gly) n.895C>G c.656C>G (p.Ala219Gly) c.443C>G (p.Ala148Gly) n.839C>G n.927C>G c.798C>G (p.Arg266=) c.698C>G (p.Ala233Gly) c.632C>G (p.Ala211Gly) c.551C>G (p.Ala184Gly) n.908C>G c.-122C>G (n.-122C>G) | |
| 4 | g.1002028C>T | CA355962386 | IDUA | c.839C>T (p.Ala280Val) n.895C>T c.656C>T (p.Ala219Val) c.443C>T (p.Ala148Val) n.839C>T n.927C>T c.798C>T (p.Arg266=) c.698C>T (p.Ala233Val) c.632C>T (p.Ala211Val) c.551C>T (p.Ala184Val) n.908C>T c.-122C>T (n.-122C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.1002029G>A | CA438057455 | IDUA | c.840G>A (p.Ala280=) n.896G>A c.657G>A (p.Ala219=) c.444G>A (p.Ala148=) n.840G>A n.928G>A c.799G>A (p.Ala267Thr) c.699G>A (p.Ala233=) c.633G>A (p.Ala211=) c.552G>A (p.Ala184=) n.909G>A c.-121G>A (n.-121G>A) | gnomAD v4 |
| 4 | g.1002029G>C | CA438057456 | IDUA | c.840G>C (p.Ala280=) n.896G>C c.657G>C (p.Ala219=) c.444G>C (p.Ala148=) n.840G>C n.928G>C c.799G>C (p.Ala267Pro) c.699G>C (p.Ala233=) c.633G>C (p.Ala211=) c.552G>C (p.Ala184=) n.909G>C c.-121G>C (n.-121G>C) | ClinVar dbSNP |
| 4 | g.1002029G>T | CA438057457 | IDUA | c.840G>T (p.Ala280=) n.896G>T c.657G>T (p.Ala219=) c.444G>T (p.Ala148=) n.840G>T n.928G>T c.799G>T (p.Ala267Ser) c.699G>T (p.Ala233=) c.633G>T (p.Ala211=) c.552G>T (p.Ala184=) n.909G>T c.-121G>T (n.-121G>T) | gnomAD v4 |
| 4 | g.1002030C>A | CA355962387 | IDUA | c.841C>A (p.Gln281Lys) n.897C>A c.658C>A (p.Gln220Lys) c.445C>A (p.Gln149Lys) n.841C>A n.929C>A c.800C>A (p.Ala267Glu) c.700C>A (p.Gln234Lys) c.634C>A (p.Gln212Lys) c.553C>A (p.Gln185Lys) n.910C>A c.-120C>A (n.-120C>A) | |
| 4 | g.1002030C>G | CA355962388 | IDUA | c.841C>G (p.Gln281Glu) n.897C>G c.658C>G (p.Gln220Glu) c.445C>G (p.Gln149Glu) n.841C>G n.929C>G c.800C>G (p.Ala267Gly) c.700C>G (p.Gln234Glu) c.634C>G (p.Gln212Glu) c.553C>G (p.Gln185Glu) n.910C>G c.-120C>G (n.-120C>G) | |
| 4 | g.1002030C>T | CA355962389 | IDUA | c.841C>T (p.Gln281Ter) n.897C>T c.658C>T (p.Gln220Ter) c.445C>T (p.Gln149Ter) n.841C>T n.929C>T c.800C>T (p.Ala267Val) c.700C>T (p.Gln234Ter) c.634C>T (p.Gln212Ter) c.553C>T (p.Gln185Ter) n.910C>T c.-120C>T (n.-120C>T) | |
| 4 | g.1002031A= | CA1433068524 | IDUA | c.842A= (p.Gln281=) n.898A= c.659A= (p.Gln220=) c.446A= (p.Gln149=) n.842A= n.930A= c.801A= (p.Ala267=) c.701A= (p.Gln234=) c.635A= (p.Gln212=) c.554A= (p.Gln185=) n.911A= c.-119A= (n.-119A=) | |
| 4 | g.1002031A>C | CA355962390 | IDUA | c.842A>C (p.Gln281Pro) n.898A>C c.659A>C (p.Gln220Pro) c.446A>C (p.Gln149Pro) n.842A>C n.930A>C c.801A>C (p.Ala267=) c.701A>C (p.Gln234Pro) c.635A>C (p.Gln212Pro) c.554A>C (p.Gln185Pro) n.911A>C c.-119A>C (n.-119A>C) | |
| 4 | g.1002031A>G | CA2802107 | IDUA | c.842A>G (p.Gln281Arg) n.898A>G c.659A>G (p.Gln220Arg) c.446A>G (p.Gln149Arg) n.842A>G n.930A>G c.801A>G (p.Ala267=) c.701A>G (p.Gln234Arg) c.635A>G (p.Gln212Arg) c.554A>G (p.Gln185Arg) n.911A>G c.-119A>G (n.-119A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1002031A>T | CA355962391 | IDUA | c.842A>T (p.Gln281Leu) n.898A>T c.659A>T (p.Gln220Leu) c.446A>T (p.Gln149Leu) n.842A>T n.930A>T c.801A>T (p.Ala267=) c.701A>T (p.Gln234Leu) c.635A>T (p.Gln212Leu) c.554A>T (p.Gln185Leu) n.911A>T c.-119A>T (n.-119A>T) | |
| 4 | g.1002032G>A | CA438057460 | IDUA | c.843G>A (p.Gln281=) n.899G>A c.660G>A (p.Gln220=) c.447G>A (p.Gln149=) n.843G>A n.931G>A c.802G>A (p.Ala268Thr) c.702G>A (p.Gln234=) c.636G>A (p.Gln212=) c.555G>A (p.Gln185=) n.912G>A c.-118G>A (n.-118G>A) | gnomAD v4 |
| 4 | g.1002032G>C | CA355962393 | IDUA | c.843G>C (p.Gln281His) n.899G>C c.660G>C (p.Gln220His) c.447G>C (p.Gln149His) n.843G>C n.931G>C c.802G>C (p.Ala268Pro) c.702G>C (p.Gln234His) c.636G>C (p.Gln212His) c.555G>C (p.Gln185His) n.912G>C c.-118G>C (n.-118G>C) | |
| 4 | g.1002032G>T | CA355962392 | IDUA | c.843G>T (p.Gln281His) n.899G>T c.660G>T (p.Gln220His) c.447G>T (p.Gln149His) n.843G>T n.931G>T c.802G>T (p.Ala268Ser) c.702G>T (p.Gln234His) c.636G>T (p.Gln212His) c.555G>T (p.Gln185His) n.912G>T c.-118G>T (n.-118G>T) | gnomAD v4 |
| 4 | g.1002033C>A | CA355962394 | IDUA | c.844C>A (p.Gln282Lys) n.900C>A c.661C>A (p.Gln221Lys) c.448C>A (p.Gln150Lys) n.844C>A n.932C>A c.803C>A (p.Ala268Glu) c.703C>A (p.Gln235Lys) c.637C>A (p.Gln213Lys) c.556C>A (p.Gln186Lys) n.913C>A c.-117C>A (n.-117C>A) | gnomAD v4 |
| 4 | g.1002033C>G | CA355962395 | IDUA | c.844C>G (p.Gln282Glu) n.900C>G c.661C>G (p.Gln221Glu) c.448C>G (p.Gln150Glu) n.844C>G n.932C>G c.803C>G (p.Ala268Gly) c.703C>G (p.Gln235Glu) c.637C>G (p.Gln213Glu) c.556C>G (p.Gln186Glu) n.913C>G c.-117C>G (n.-117C>G) | |
| 4 | g.1002033C>T | CA355962396 | IDUA | c.844C>T (p.Gln282Ter) n.900C>T c.661C>T (p.Gln221Ter) c.448C>T (p.Gln150Ter) n.844C>T n.932C>T c.803C>T (p.Ala268Val) c.703C>T (p.Gln235Ter) c.637C>T (p.Gln213Ter) c.556C>T (p.Gln186Ter) n.913C>T c.-117C>T (n.-117C>T) | gnomAD v4 |
| 4 | g.1002034A= | CA1433068528 | IDUA | c.845A= (p.Gln282=) n.901A= c.662A= (p.Gln221=) c.449A= (p.Gln150=) n.845A= n.933A= c.804A= (p.Ala268=) c.704A= (p.Gln235=) c.638A= (p.Gln213=) c.557A= (p.Gln186=) n.914A= c.-116A= (n.-116A=) | |
| 4 | g.1002034A>C | CA355962397 | IDUA | c.845A>C (p.Gln282Pro) n.901A>C c.662A>C (p.Gln221Pro) c.449A>C (p.Gln150Pro) n.845A>C n.933A>C c.804A>C (p.Ala268=) c.704A>C (p.Gln235Pro) c.638A>C (p.Gln213Pro) c.557A>C (p.Gln186Pro) n.914A>C c.-116A>C (n.-116A>C) | |
| 4 | g.1002034A>G | CA355962398 | IDUA | c.845A>G (p.Gln282Arg) n.901A>G c.662A>G (p.Gln221Arg) c.449A>G (p.Gln150Arg) n.845A>G n.933A>G c.804A>G (p.Ala268=) c.704A>G (p.Gln235Arg) c.638A>G (p.Gln213Arg) c.557A>G (p.Gln186Arg) n.914A>G c.-116A>G (n.-116A>G) | |
| 4 | g.1002034A>T | CA10604740 | IDUA | c.845A>T (p.Gln282Leu) n.901A>T c.662A>T (p.Gln221Leu) c.449A>T (p.Gln150Leu) n.845A>T n.933A>T c.804A>T (p.Ala268=) c.704A>T (p.Gln235Leu) c.638A>T (p.Gln213Leu) c.557A>T (p.Gln186Leu) n.914A>T c.-116A>T (n.-116A>T) | ClinVar dbSNP |
| 4 | g.1002035G>A | CA2802108 | IDUA | c.846G>A (p.Gln282=) n.902G>A c.663G>A (p.Gln221=) c.450G>A (p.Gln150=) n.846G>A n.934G>A c.805G>A (p.Asp269Asn) c.705G>A (p.Gln235=) c.639G>A (p.Gln213=) c.558G>A (p.Gln186=) n.915G>A c.-115G>A (n.-115G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1002035G>C | CA355962399 | IDUA | c.846G>C (p.Gln282His) n.902G>C c.663G>C (p.Gln221His) c.450G>C (p.Gln150His) n.846G>C n.934G>C c.805G>C (p.Asp269His) c.705G>C (p.Gln235His) c.639G>C (p.Gln213His) c.558G>C (p.Gln186His) n.915G>C c.-115G>C (n.-115G>C) | dbSNP |
| 4 | g.1002035G= | CA1433068533 | IDUA | c.846G= (p.Gln282=) n.902G= c.663G= (p.Gln221=) c.450G= (p.Gln150=) n.846G= n.934G= c.805G= (p.Asp269=) c.705G= (p.Gln235=) c.639G= (p.Gln213=) c.558G= (p.Gln186=) n.915G= c.-115G= (n.-115G=) | |
| 4 | g.1002035G>T | CA355962400 | IDUA | c.846G>T (p.Gln282His) n.902G>T c.663G>T (p.Gln221His) c.450G>T (p.Gln150His) n.846G>T n.934G>T c.805G>T (p.Asp269Tyr) c.705G>T (p.Gln235His) c.639G>T (p.Gln213His) c.558G>T (p.Gln186His) n.915G>T c.-115G>T (n.-115G>T) | gnomAD v4 |
| 4 | g.1002036A>C | CA355962401 | IDUA | c.847A>C (p.Ile283Leu) n.903A>C c.664A>C (p.Ile222Leu) c.451A>C (p.Ile151Leu) n.847A>C n.935A>C c.806A>C (p.Asp269Ala) c.706A>C (p.Ile236Leu) c.640A>C (p.Ile214Leu) c.559A>C (p.Ile187Leu) n.916A>C c.-114A>C (n.-114A>C) | |
| 4 | g.1002036A>G | CA355962402 | IDUA | c.847A>G (p.Ile283Val) n.903A>G c.664A>G (p.Ile222Val) c.451A>G (p.Ile151Val) n.847A>G n.935A>G c.806A>G (p.Asp269Gly) c.706A>G (p.Ile236Val) c.640A>G (p.Ile214Val) c.559A>G (p.Ile187Val) n.916A>G c.-114A>G (n.-114A>G) | gnomAD v4 |
| 4 | g.1002036A>T | CA355962403 | IDUA | c.847A>T (p.Ile283Phe) n.903A>T c.664A>T (p.Ile222Phe) c.451A>T (p.Ile151Phe) n.847A>T n.935A>T c.806A>T (p.Asp269Val) c.706A>T (p.Ile236Phe) c.640A>T (p.Ile214Phe) c.559A>T (p.Ile187Phe) n.916A>T c.-114A>T (n.-114A>T) | |
| 4 | g.1002037T>A | CA355962404 | IDUA | c.848T>A (p.Ile283Asn) n.904T>A c.665T>A (p.Ile222Asn) c.452T>A (p.Ile151Asn) n.848T>A n.936T>A c.807T>A (p.Asp269Glu) c.707T>A (p.Ile236Asn) c.641T>A (p.Ile214Asn) c.560T>A (p.Ile187Asn) n.917T>A c.-113T>A (n.-113T>A) | |
| 4 | g.1002037T>C | CA2802109 | IDUA | c.848T>C (p.Ile283Thr) n.904T>C c.665T>C (p.Ile222Thr) c.452T>C (p.Ile151Thr) n.848T>C n.936T>C c.807T>C (p.Asp269=) c.707T>C (p.Ile236Thr) c.641T>C (p.Ile214Thr) c.560T>C (p.Ile187Thr) n.917T>C c.-113T>C (n.-113T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1002037T>G | CA355962405 | IDUA | c.848T>G (p.Ile283Ser) n.904T>G c.665T>G (p.Ile222Ser) c.452T>G (p.Ile151Ser) n.848T>G n.936T>G c.807T>G (p.Asp269Glu) c.707T>G (p.Ile236Ser) c.641T>G (p.Ile214Ser) c.560T>G (p.Ile187Ser) n.917T>G c.-113T>G (n.-113T>G) | |
| 4 | g.1002037T= | CA1433068535 | IDUA | c.848T= (p.Ile283=) n.904T= c.665T= (p.Ile222=) c.452T= (p.Ile151=) n.848T= n.936T= c.807T= (p.Asp269=) c.707T= (p.Ile236=) c.641T= (p.Ile214=) c.560T= (p.Ile187=) n.917T= c.-113T= (n.-113T=) |