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 |
|---|---|---|---|---|---|
| 8 | g.43192350A= | CA1779759954 | HGSNAT | c.1297A= (p.Asn433=) n.230A= c.448A= (p.Asn150=) c.401A= c.1105A= (p.Asn369=) c.433A= (p.Asn145=) | |
| 8 | g.43192350A>C | CA371119631 | HGSNAT | c.1297A>C (p.Asn433His) n.230A>C c.448A>C (p.Asn150His) c.401A>C c.1105A>C (p.Asn369His) c.433A>C (p.Asn145His) | |
| 8 | g.43192350A>G | CA4736837 | HGSNAT | c.1297A>G (p.Asn433Asp) n.230A>G c.448A>G (p.Asn150Asp) c.401A>G c.1105A>G (p.Asn369Asp) c.433A>G (p.Asn145Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192350A>T | CA371119632 | HGSNAT | c.1297A>T (p.Asn433Tyr) n.230A>T c.448A>T (p.Asn150Tyr) c.401A>T c.1105A>T (p.Asn369Tyr) c.433A>T (p.Asn145Tyr) | |
| 8 | g.43192351A>C | CA371119633 | HGSNAT | c.1298A>C (p.Asn433Thr) n.231A>C c.449A>C (p.Asn150Thr) c.402A>C c.1106A>C (p.Asn369Thr) c.434A>C (p.Asn145Thr) | COSMIC COSMIC |
| 8 | g.43192351A>G | CA371119634 | HGSNAT | c.1298A>G (p.Asn433Ser) n.231A>G c.449A>G (p.Asn150Ser) c.402A>G c.1106A>G (p.Asn369Ser) c.434A>G (p.Asn145Ser) | |
| 8 | g.43192351A>T | CA371119635 | HGSNAT | c.1298A>T (p.Asn433Ile) n.231A>T c.449A>T (p.Asn150Ile) c.402A>T c.1106A>T (p.Asn369Ile) c.434A>T (p.Asn145Ile) | |
| 8 | g.43192352T>A | CA371119636 | HGSNAT | c.1299T>A (p.Asn433Lys) n.232T>A c.450T>A (p.Asn150Lys) c.403T>A c.1107T>A (p.Asn369Lys) c.435T>A (p.Asn145Lys) | |
| 8 | g.43192352T>C | CA460578302 | HGSNAT | c.1299T>C (p.Asn433=) n.232T>C c.450T>C (p.Asn150=) c.403T>C c.1107T>C (p.Asn369=) c.435T>C (p.Asn145=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43192352T>G | CA371119637 | HGSNAT | c.1299T>G (p.Asn433Lys) n.232T>G c.450T>G (p.Asn150Lys) c.403T>G c.1107T>G (p.Asn369Lys) c.435T>G (p.Asn145Lys) | |
| 8 | g.43192353T>A | CA371119638 | HGSNAT | c.1300T>A (p.Cys434Ser) n.233T>A c.451T>A (p.Cys151Ser) c.404T>A c.1108T>A (p.Cys370Ser) c.436T>A (p.Cys146Ser) | |
| 8 | g.43192353T>C | CA371119639 | HGSNAT | c.1300T>C (p.Cys434Arg) n.233T>C c.451T>C (p.Cys151Arg) c.404T>C c.1108T>C (p.Cys370Arg) c.436T>C (p.Cys146Arg) | |
| 8 | g.43192353T>G | CA371119640 | HGSNAT | c.1300T>G (p.Cys434Gly) n.233T>G c.451T>G (p.Cys151Gly) c.404T>G c.1108T>G (p.Cys370Gly) c.436T>G (p.Cys146Gly) | |
| 8 | g.43192354G>A | CA4736838 | HGSNAT | c.1301G>A (p.Cys434Tyr) n.234G>A c.452G>A (p.Cys151Tyr) c.405G>A c.1109G>A (p.Cys370Tyr) c.437G>A (p.Cys146Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43192354G>C | CA371119641 | HGSNAT | c.1301G>C (p.Cys434Ser) n.234G>C c.452G>C (p.Cys151Ser) c.405G>C c.1109G>C (p.Cys370Ser) c.437G>C (p.Cys146Ser) | |
| 8 | g.43192354G= | CA1779759955 | HGSNAT | c.1301G= (p.Cys434=) n.234G= c.452G= (p.Cys151=) c.405G= c.1109G= (p.Cys370=) c.437G= (p.Cys146=) | |
| 8 | g.43192354G>T | CA371119642 | HGSNAT | c.1301G>T (p.Cys434Phe) n.234G>T c.452G>T (p.Cys151Phe) c.405G>T c.1109G>T (p.Cys370Phe) c.437G>T (p.Cys146Phe) | |
| 8 | g.43192355C>A | CA371119644 | HGSNAT | c.1302C>A (p.Cys434Ter) n.235C>A c.453C>A (p.Cys151Ter) c.406C>A c.1110C>A (p.Cys370Ter) c.438C>A (p.Cys146Ter) | |
| 8 | g.43192355C= | CA1779759956 | HGSNAT | c.1302C= (p.Cys434=) n.235C= c.453C= (p.Cys151=) c.406C= c.1110C= (p.Cys370=) c.438C= (p.Cys146=) | |
| 8 | g.43192355C>G | CA371119643 | HGSNAT | c.1302C>G (p.Cys434Trp) n.235C>G c.453C>G (p.Cys151Trp) c.406C>G c.1110C>G (p.Cys370Trp) c.438C>G (p.Cys146Trp) | |
| 8 | g.43192355C>T | CA4736839 | HGSNAT | c.1302C>T (p.Cys434=) n.235C>T c.453C>T (p.Cys151=) c.406C>T c.1110C>T (p.Cys370=) c.438C>T (p.Cys146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43192356A>C | CA371119645 | HGSNAT | c.1303A>C (p.Thr435Pro) n.236A>C c.454A>C (p.Thr152Pro) c.407A>C c.1111A>C (p.Thr371Pro) c.439A>C (p.Thr147Pro) | |
| 8 | g.43192356A>G | CA371119646 | HGSNAT | c.1303A>G (p.Thr435Ala) n.236A>G c.454A>G (p.Thr152Ala) c.407A>G c.1111A>G (p.Thr371Ala) c.439A>G (p.Thr147Ala) | gnomAD v4 |
| 8 | g.43192356A>T | CA371119647 | HGSNAT | c.1303A>T (p.Thr435Ser) n.236A>T c.454A>T (p.Thr152Ser) c.407A>T c.1111A>T (p.Thr371Ser) c.439A>T (p.Thr147Ser) | |
| 8 | g.43192357C>A | CA371119648 | HGSNAT | c.1304C>A (p.Thr435Asn) n.237C>A c.455C>A (p.Thr152Asn) c.408C>A c.1112C>A (p.Thr371Asn) c.440C>A (p.Thr147Asn) | |
| 8 | g.43192357C>G | CA371119649 | HGSNAT | c.1304C>G (p.Thr435Ser) n.237C>G c.455C>G (p.Thr152Ser) c.408C>G c.1112C>G (p.Thr371Ser) c.440C>G (p.Thr147Ser) | gnomAD v4 |
| 8 | g.43192357C>T | CA371119650 | HGSNAT | c.1304C>T (p.Thr435Ile) n.237C>T c.455C>T (p.Thr152Ile) c.408C>T c.1112C>T (p.Thr371Ile) c.440C>T (p.Thr147Ile) | |
| 8 | g.43192358T>A | CA460578320 | HGSNAT | c.1305T>A (p.Thr435=) n.238T>A c.456T>A (p.Thr152=) c.409T>A c.1113T>A (p.Thr371=) c.441T>A (p.Thr147=) | |
| 8 | g.43192358T>C | CA460578322 | HGSNAT | c.1305T>C (p.Thr435=) n.238T>C c.456T>C (p.Thr152=) c.409T>C c.1113T>C (p.Thr371=) c.441T>C (p.Thr147=) | |
| 8 | g.43192358T>G | CA460578324 | HGSNAT | c.1305T>G (p.Thr435=) n.238T>G c.456T>G (p.Thr152=) c.409T>G c.1113T>G (p.Thr371=) c.441T>G (p.Thr147=) | |
| 8 | g.43192359G>A | CA371119653 | HGSNAT | c.1306G>A (p.Gly436Arg) n.239G>A c.457G>A (p.Gly153Arg) c.410G>A c.1114G>A (p.Gly372Arg) c.442G>A (p.Gly148Arg) | |
| 8 | g.43192359G>C | CA371119652 | HGSNAT | c.1306G>C (p.Gly436Arg) n.239G>C c.457G>C (p.Gly153Arg) c.410G>C c.1114G>C (p.Gly372Arg) c.442G>C (p.Gly148Arg) | |
| 8 | g.43192359G= | CA1779759957 | HGSNAT | c.1306G= (p.Gly436=) n.239G= c.457G= (p.Gly153=) c.410G= c.1114G= (p.Gly372=) c.442G= (p.Gly148=) | |
| 8 | g.43192359G>T | CA371119651 | HGSNAT | c.1306G>T (p.Gly436Ter) n.239G>T c.457G>T (p.Gly153Ter) c.410G>T c.1114G>T (p.Gly372Ter) c.442G>T (p.Gly148Ter) | dbSNP |
| 8 | g.43192360G>A | CA371119654 | HGSNAT | c.1307G>A (p.Gly436Glu) n.240G>A c.458G>A (p.Gly153Glu) c.411G>A c.1115G>A (p.Gly372Glu) c.443G>A (p.Gly148Glu) | |
| 8 | g.43192360G>C | CA371119655 | HGSNAT | c.1307G>C (p.Gly436Ala) n.240G>C c.458G>C (p.Gly153Ala) c.411G>C c.1115G>C (p.Gly372Ala) c.443G>C (p.Gly148Ala) | |
| 8 | g.43192360G>T | CA371119656 | HGSNAT | c.1307G>T (p.Gly436Val) n.240G>T c.458G>T (p.Gly153Val) c.411G>T c.1115G>T (p.Gly372Val) c.443G>T (p.Gly148Val) | |
| 8 | g.43192361A>C | CA460578337 | HGSNAT | c.1308A>C (p.Gly436=) n.241A>C c.459A>C (p.Gly153=) c.412A>C c.1116A>C (p.Gly372=) c.444A>C (p.Gly148=) | |
| 8 | g.43192361A>G | CA460578333 | HGSNAT | c.1308A>G (p.Gly436=) n.241A>G c.459A>G (p.Gly153=) c.412A>G c.1116A>G (p.Gly372=) c.444A>G (p.Gly148=) | |
| 8 | g.43192361A>T | CA460578335 | HGSNAT | c.1308A>T (p.Gly436=) n.241A>T c.459A>T (p.Gly153=) c.412A>T c.1116A>T (p.Gly372=) c.444A>T (p.Gly148=) | |
| 8 | g.43192362G>A | CA371119657 | HGSNAT | c.1309G>A (p.Gly437Arg) n.242G>A c.460G>A (p.Gly154Arg) c.413G>A c.1117G>A (p.Gly373Arg) c.445G>A (p.Gly149Arg) | |
| 8 | g.43192362G>C | CA371119658 | HGSNAT | c.1309G>C (p.Gly437Arg) n.242G>C c.460G>C (p.Gly154Arg) c.413G>C c.1117G>C (p.Gly373Arg) c.445G>C (p.Gly149Arg) | |
| 8 | g.43192362G>T | CA371119659 | HGSNAT | c.1309G>T (p.Gly437Ter) n.242G>T c.460G>T (p.Gly154Ter) c.413G>T c.1117G>T (p.Gly373Ter) c.445G>T (p.Gly149Ter) | |
| 8 | g.43192363G>A | CA371119662 | HGSNAT | c.1310G>A (p.Gly437Glu) n.243G>A c.461G>A (p.Gly154Glu) c.414G>A c.1118G>A (p.Gly373Glu) c.446G>A (p.Gly149Glu) | |
| 8 | g.43192363G>C | CA371119660 | HGSNAT | c.1310G>C (p.Gly437Ala) n.243G>C c.461G>C (p.Gly154Ala) c.414G>C c.1118G>C (p.Gly373Ala) c.446G>C (p.Gly149Ala) | |
| 8 | g.43192363G>T | CA371119661 | HGSNAT | c.1310G>T (p.Gly437Val) n.243G>T c.461G>T (p.Gly154Val) c.414G>T c.1118G>T (p.Gly373Val) c.446G>T (p.Gly149Val) | |
| 8 | g.43192364A>C | CA460578345 | HGSNAT | c.1311A>C (p.Gly437=) n.244A>C c.462A>C (p.Gly154=) c.415A>C c.1119A>C (p.Gly373=) c.447A>C (p.Gly149=) | |
| 8 | g.43192364A>G | CA460578348 | HGSNAT | c.1311A>G (p.Gly437=) n.244A>G c.462A>G (p.Gly154=) c.415A>G c.1119A>G (p.Gly373=) c.447A>G (p.Gly149=) | |
| 8 | g.43192364A>T | CA460578350 | HGSNAT | c.1311A>T (p.Gly437=) n.244A>T c.462A>T (p.Gly154=) c.415A>T c.1119A>T (p.Gly373=) c.447A>T (p.Gly149=) | |
| 8 | g.43192365G>A | CA4736840 | HGSNAT | c.1312G>A (p.Ala438Thr) n.245G>A c.463G>A (p.Ala155Thr) c.416G>A c.1120G>A (p.Ala374Thr) c.448G>A (p.Ala150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |