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.43192399A>C | CA371119726 | HGSNAT | c.1346A>C (p.Asp449Ala) n.279A>C c.497A>C (p.Asp166Ala) c.450A>C c.1154A>C (p.Asp385Ala) c.482A>C (p.Asp161Ala) | |
| 8 | g.43192399A>G | CA371119727 | HGSNAT | c.1346A>G (p.Asp449Gly) n.279A>G c.497A>G (p.Asp166Gly) c.450A>G c.1154A>G (p.Asp385Gly) c.482A>G (p.Asp161Gly) | gnomAD v4 |
| 8 | g.43192399A>T | CA371119728 | HGSNAT | c.1346A>T (p.Asp449Val) n.279A>T c.497A>T (p.Asp166Val) c.450A>T c.1154A>T (p.Asp385Val) c.482A>T (p.Asp161Val) | |
| 8 | g.43192400C>A | CA371119730 | HGSNAT | c.1347C>A (p.Asp449Glu) n.280C>A c.498C>A (p.Asp166Glu) c.451C>A c.1155C>A (p.Asp385Glu) c.483C>A (p.Asp161Glu) | |
| 8 | g.43192400C= | CA1779759977 | HGSNAT | c.1347C= (p.Asp449=) n.280C= c.498C= (p.Asp166=) c.451C= c.1155C= (p.Asp385=) c.483C= (p.Asp161=) | |
| 8 | g.43192400C>G | CA371119729 | HGSNAT | c.1347C>G (p.Asp449Glu) n.280C>G c.498C>G (p.Asp166Glu) c.451C>G c.1155C>G (p.Asp385Glu) c.483C>G (p.Asp161Glu) | gnomAD v4 |
| 8 | g.43192400C>T | CA4736847 | HGSNAT | c.1347C>T (p.Asp449=) n.280C>T c.498C>T (p.Asp166=) c.451C>T c.1155C>T (p.Asp385=) c.483C>T (p.Asp161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192400_43192401delinsCG | CA1779759978 | HGSNAT | c.1347_1348delinsCG (p.Asp449=) n.280_281delinsCG c.498_499delinsCG (p.Asp166=) c.451_452delinsCG c.1155_1156delinsCG (p.Asp385=) c.483_484delinsCG (p.Asp161=) | |
| 8 | g.43192401del | CA4736848 | HGSNAT | c.1348del (p.Asp450IlefsTer?) n.281del c.499del (p.Asp167IlefsTer?) c.452del c.1156del (p.Asp386IlefsTer?) c.484del (p.Asp162IlefsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43192401G>A | CA176073993 | HGSNAT | c.1348G>A (p.Asp450Asn) n.281G>A c.499G>A (p.Asp167Asn) c.452G>A c.1156G>A (p.Asp386Asn) c.484G>A (p.Asp162Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43192401G>C | CA371119731 | HGSNAT | c.1348G>C (p.Asp450His) n.281G>C c.499G>C (p.Asp167His) c.452G>C c.1156G>C (p.Asp386His) c.484G>C (p.Asp162His) | |
| 8 | g.43192401G= | CA1779759979 | HGSNAT | c.1348G= (p.Asp450=) n.281G= c.499G= (p.Asp167=) c.452G= c.1156G= (p.Asp386=) c.484G= (p.Asp162=) | |
| 8 | g.43192401G>T | CA371119732 | HGSNAT | c.1348G>T (p.Asp450Tyr) n.281G>T c.499G>T (p.Asp167Tyr) c.452G>T c.1156G>T (p.Asp386Tyr) c.484G>T (p.Asp162Tyr) | dbSNP |
| 8 | g.43192402A>C | CA371119733 | HGSNAT | c.1349A>C (p.Asp450Ala) n.282A>C c.500A>C (p.Asp167Ala) c.453A>C c.1157A>C (p.Asp386Ala) c.485A>C (p.Asp162Ala) | |
| 8 | g.43192402A>G | CA371119734 | HGSNAT | c.1349A>G (p.Asp450Gly) n.282A>G c.500A>G (p.Asp167Gly) c.453A>G c.1157A>G (p.Asp386Gly) c.485A>G (p.Asp162Gly) | |
| 8 | g.43192402A>T | CA371119735 | HGSNAT | c.1349A>T (p.Asp450Val) n.282A>T c.500A>T (p.Asp167Val) c.453A>T c.1157A>T (p.Asp386Val) c.485A>T (p.Asp162Val) | |
| 8 | g.43192403T>A | CA371119736 | HGSNAT | c.1350T>A (p.Asp450Glu) n.283T>A c.501T>A (p.Asp167Glu) c.454T>A c.1158T>A (p.Asp386Glu) c.486T>A (p.Asp162Glu) | |
| 8 | g.43192403T>C | CA460578524 | HGSNAT | c.1350T>C (p.Asp450=) n.283T>C c.501T>C (p.Asp167=) c.454T>C c.1158T>C (p.Asp386=) c.486T>C (p.Asp162=) | |
| 8 | g.43192403T>G | CA371119737 | HGSNAT | c.1350T>G (p.Asp450Glu) n.283T>G c.501T>G (p.Asp167Glu) c.454T>G c.1158T>G (p.Asp386Glu) c.486T>G (p.Asp162Glu) | |
| 8 | g.43192404C>A | CA371119738 | HGSNAT | c.1351C>A (p.His451Asn) n.284C>A c.502C>A (p.His168Asn) c.455C>A c.1159C>A (p.His387Asn) c.487C>A (p.His163Asn) | |
| 8 | g.43192404C>G | CA371119739 | HGSNAT | c.1351C>G (p.His451Asp) n.284C>G c.502C>G (p.His168Asp) c.455C>G c.1159C>G (p.His387Asp) c.487C>G (p.His163Asp) | |
| 8 | g.43192404C>T | CA371119740 | HGSNAT | c.1351C>T (p.His451Tyr) n.284C>T c.502C>T (p.His168Tyr) c.455C>T c.1159C>T (p.His387Tyr) c.487C>T (p.His163Tyr) | |
| 8 | g.43192405A>C | CA371119743 | HGSNAT | c.1352A>C (p.His451Pro) n.285A>C c.503A>C (p.His168Pro) c.456A>C c.1160A>C (p.His387Pro) c.488A>C (p.His163Pro) | |
| 8 | g.43192405A>G | CA371119741 | HGSNAT | c.1352A>G (p.His451Arg) n.285A>G c.503A>G (p.His168Arg) c.456A>G c.1160A>G (p.His387Arg) c.488A>G (p.His163Arg) | |
| 8 | g.43192405A>T | CA371119742 | HGSNAT | c.1352A>T (p.His451Leu) n.285A>T c.503A>T (p.His168Leu) c.456A>T c.1160A>T (p.His387Leu) c.488A>T (p.His163Leu) | |
| 8 | g.43192406C>A | CA371119744 | HGSNAT | c.1353C>A (p.His451Gln) n.286C>A c.504C>A (p.His168Gln) c.457C>A c.1161C>A (p.His387Gln) c.489C>A (p.His163Gln) | |
| 8 | g.43192406C>G | CA371119745 | HGSNAT | c.1353C>G (p.His451Gln) n.286C>G c.504C>G (p.His168Gln) c.457C>G c.1161C>G (p.His387Gln) c.489C>G (p.His163Gln) | |
| 8 | g.43192406C>T | CA460578533 | HGSNAT | c.1353C>T (p.His451=) n.286C>T c.504C>T (p.His168=) c.457C>T c.1161C>T (p.His387=) c.489C>T (p.His163=) | ClinVar gnomAD v4 |
| 8 | g.43192407C>A | CA371119746 | HGSNAT | c.1354C>A (p.Leu452Ile) n.287C>A c.505C>A (p.Leu169Ile) c.458C>A c.1162C>A (p.Leu388Ile) c.490C>A (p.Leu164Ile) | |
| 8 | g.43192407C= | CA1779759980 | HGSNAT | c.1354C= (p.Leu452=) n.287C= c.505C= (p.Leu169=) c.458C= c.1162C= (p.Leu388=) c.490C= (p.Leu164=) | |
| 8 | g.43192407C>G | CA371119747 | HGSNAT | c.1354C>G (p.Leu452Val) n.287C>G c.505C>G (p.Leu169Val) c.458C>G c.1162C>G (p.Leu388Val) c.490C>G (p.Leu164Val) | dbSNP |
| 8 | g.43192407C>T | CA371119748 | HGSNAT | c.1354C>T (p.Leu452Phe) n.287C>T c.505C>T (p.Leu169Phe) c.458C>T c.1162C>T (p.Leu388Phe) c.490C>T (p.Leu164Phe) | |
| 8 | g.43192408T>A | CA371119749 | HGSNAT | c.1355T>A (p.Leu452His) n.288T>A c.506T>A (p.Leu169His) c.459T>A c.1163T>A (p.Leu388His) c.491T>A (p.Leu164His) | |
| 8 | g.43192408T>C | CA371119750 | HGSNAT | c.1355T>C (p.Leu452Pro) n.288T>C c.506T>C (p.Leu169Pro) c.459T>C c.1163T>C (p.Leu388Pro) c.491T>C (p.Leu164Pro) | |
| 8 | g.43192408T>G | CA371119751 | HGSNAT | c.1355T>G (p.Leu452Arg) n.288T>G c.506T>G (p.Leu169Arg) c.459T>G c.1163T>G (p.Leu388Arg) c.491T>G (p.Leu164Arg) | gnomAD v4 |
| 8 | g.43192409T>A | CA460578541 | HGSNAT | c.1356T>A (p.Leu452=) n.289T>A c.507T>A (p.Leu169=) c.460T>A c.1164T>A (p.Leu388=) c.492T>A (p.Leu164=) | |
| 8 | g.43192409T>C | CA460578543 | HGSNAT | c.1356T>C (p.Leu452=) n.289T>C c.507T>C (p.Leu169=) c.460T>C c.1164T>C (p.Leu388=) c.492T>C (p.Leu164=) | |
| 8 | g.43192409T>G | CA460578545 | HGSNAT | c.1356T>G (p.Leu452=) n.289T>G c.507T>G (p.Leu169=) c.460T>G c.1164T>G (p.Leu388=) c.492T>G (p.Leu164=) | |
| 8 | g.43192409_43192411del | CA2580078505 | HGSNAT | c.1356_1358del (p.Tyr453del) n.289_291del c.507_509del (p.Tyr170del) c.460_462del c.1164_1166del (p.Tyr389del) c.492_494del (p.Tyr165del) | ClinVar |
| 8 | g.43192410T>A | CA371119752 | HGSNAT | c.1357T>A (p.Tyr453Asn) n.290T>A c.508T>A (p.Tyr170Asn) c.461T>A c.1165T>A (p.Tyr389Asn) c.493T>A (p.Tyr165Asn) | |
| 8 | g.43192410T>C | CA371119753 | HGSNAT | c.1357T>C (p.Tyr453His) n.290T>C c.508T>C (p.Tyr170His) c.461T>C c.1165T>C (p.Tyr389His) c.493T>C (p.Tyr165His) | |
| 8 | g.43192410T>G | CA371119754 | HGSNAT | c.1357T>G (p.Tyr453Asp) n.290T>G c.508T>G (p.Tyr170Asp) c.461T>G c.1165T>G (p.Tyr389Asp) c.493T>G (p.Tyr165Asp) | |
| 8 | g.43192411A>C | CA371119757 | HGSNAT | c.1358A>C (p.Tyr453Ser) n.291A>C c.509A>C (p.Tyr170Ser) c.462A>C c.1166A>C (p.Tyr389Ser) c.494A>C (p.Tyr165Ser) | |
| 8 | g.43192411A>G | CA371119756 | HGSNAT | c.1358A>G (p.Tyr453Cys) n.291A>G c.509A>G (p.Tyr170Cys) c.462A>G c.1166A>G (p.Tyr389Cys) c.494A>G (p.Tyr165Cys) | ClinVar |
| 8 | g.43192411A>T | CA371119755 | HGSNAT | c.1358A>T (p.Tyr453Phe) n.291A>T c.509A>T (p.Tyr170Phe) c.462A>T c.1166A>T (p.Tyr389Phe) c.494A>T (p.Tyr165Phe) | |
| 8 | g.43192411_43192414del | CA2580078506 | HGSNAT | c.1358_1361del (p.Tyr453CysfsTer28) n.291_294del c.509_512del (p.Tyr170CysfsTer28) c.462_465del c.1166_1169del (p.Tyr389CysfsTer28) c.494_497del (p.Tyr165CysfsTer28) | ClinVar |
| 8 | g.43192412C>A | CA371119758 | HGSNAT | c.1359C>A (p.Tyr453Ter) n.292C>A c.510C>A (p.Tyr170Ter) c.463C>A c.1167C>A (p.Tyr389Ter) c.495C>A (p.Tyr165Ter) | |
| 8 | g.43192412C= | CA1779759981 | HGSNAT | c.1359C= (p.Tyr453=) n.292C= c.510C= (p.Tyr170=) c.463C= c.1167C= (p.Tyr389=) c.495C= (p.Tyr165=) | |
| 8 | g.43192412C>G | CA371119759 | HGSNAT | c.1359C>G (p.Tyr453Ter) n.292C>G c.510C>G (p.Tyr170Ter) c.463C>G c.1167C>G (p.Tyr389Ter) c.495C>G (p.Tyr165Ter) | |
| 8 | g.43192412C>T | CA176073996 | HGSNAT | c.1359C>T (p.Tyr453=) n.292C>T c.510C>T (p.Tyr170=) c.463C>T c.1167C>T (p.Tyr389=) c.495C>T (p.Tyr165=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |