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 |
|---|---|---|---|---|---|
| 10 | g.124397961T>A | CA378632992 | OAT | c.1301A>T (p.Lys434Met) c.887A>T (p.Lys296Met) c.980A>T (p.Lys327Met) c.701A>T (p.Lys234Met) | |
| 10 | g.124397961T>C | CA378632990 | OAT | c.1301A>G (p.Lys434Arg) c.887A>G (p.Lys296Arg) c.980A>G (p.Lys327Arg) c.701A>G (p.Lys234Arg) | gnomAD v4 |
| 10 | g.124397961T>G | CA378632991 | OAT | c.1301A>C (p.Lys434Thr) c.887A>C (p.Lys296Thr) c.980A>C (p.Lys327Thr) c.701A>C (p.Lys234Thr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124397962T>A | CA378632993 | OAT | c.1300A>T (p.Lys434Ter) c.886A>T (p.Lys296Ter) c.979A>T (p.Lys327Ter) c.700A>T (p.Lys234Ter) | |
| 10 | g.124397962T>C | CA5733274 | OAT | c.1300A>G (p.Lys434Glu) c.886A>G (p.Lys296Glu) c.979A>G (p.Lys327Glu) c.700A>G (p.Lys234Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397962T>G | CA378632994 | OAT | c.1300A>C (p.Lys434Gln) c.886A>C (p.Lys296Gln) c.979A>C (p.Lys327Gln) c.700A>C (p.Lys234Gln) | |
| 10 | g.124397962T= | CA1942335637 | OAT | c.1300A= (p.Lys434=) c.886A= (p.Lys296=) c.979A= (p.Lys327=) c.700A= (p.Lys234=) | |
| 10 | g.124397963G>A | CA471762491 | OAT | c.1299C>T (p.Asn433=) c.885C>T (p.Asn295=) c.978C>T (p.Asn326=) c.699C>T (p.Asn233=) | ClinVar gnomAD v4 |
| 10 | g.124397963G>C | CA378632995 | OAT | c.1299C>G (p.Asn433Lys) c.885C>G (p.Asn295Lys) c.978C>G (p.Asn326Lys) c.699C>G (p.Asn233Lys) | |
| 10 | g.124397963G>T | CA378632996 | OAT | c.1299C>A (p.Asn433Lys) c.885C>A (p.Asn295Lys) c.978C>A (p.Asn326Lys) c.699C>A (p.Asn233Lys) | |
| 10 | g.124397964T>A | CA378632997 | OAT | c.1298A>T (p.Asn433Ile) c.884A>T (p.Asn295Ile) c.977A>T (p.Asn326Ile) c.698A>T (p.Asn233Ile) | |
| 10 | g.124397964T>C | CA378632998 | OAT | c.1298A>G (p.Asn433Ser) c.884A>G (p.Asn295Ser) c.977A>G (p.Asn326Ser) c.698A>G (p.Asn233Ser) | gnomAD v4 |
| 10 | g.124397964T>G | CA378632999 | OAT | c.1298A>C (p.Asn433Thr) c.884A>C (p.Asn295Thr) c.977A>C (p.Asn326Thr) c.698A>C (p.Asn233Thr) | |
| 10 | g.124397965T>A | CA378633000 | OAT | c.1297A>T (p.Asn433Tyr) c.883A>T (p.Asn295Tyr) c.976A>T (p.Asn326Tyr) c.697A>T (p.Asn233Tyr) | |
| 10 | g.124397965T>C | CA378633001 | OAT | c.1297A>G (p.Asn433Asp) c.883A>G (p.Asn295Asp) c.976A>G (p.Asn326Asp) c.697A>G (p.Asn233Asp) | |
| 10 | g.124397965T>G | CA378633002 | OAT | c.1297A>C (p.Asn433His) c.883A>C (p.Asn295His) c.976A>C (p.Asn326His) c.697A>C (p.Asn233His) | |
| 10 | g.124397966A>C | CA378633003 | OAT | c.1296T>G (p.Ile432Met) c.882T>G (p.Ile294Met) c.975T>G (p.Ile325Met) c.696T>G (p.Ile232Met) | |
| 10 | g.124397966A>G | CA471762493 | OAT | c.1296T>C (p.Ile432=) c.882T>C (p.Ile294=) c.975T>C (p.Ile325=) c.696T>C (p.Ile232=) | |
| 10 | g.124397966A>T | CA471762492 | OAT | c.1296T>A (p.Ile432=) c.882T>A (p.Ile294=) c.975T>A (p.Ile325=) c.696T>A (p.Ile232=) | |
| 10 | g.124397967A= | CA1942335638 | OAT | c.1295T= (p.Ile432=) c.881T= (p.Ile294=) c.974T= (p.Ile325=) c.695T= (p.Ile232=) | |
| 10 | g.124397967A>C | CA378633005 | OAT | c.1295T>G (p.Ile432Ser) c.881T>G (p.Ile294Ser) c.974T>G (p.Ile325Ser) c.695T>G (p.Ile232Ser) | |
| 10 | g.124397967A>G | CA378633006 | OAT | c.1295T>C (p.Ile432Thr) c.881T>C (p.Ile294Thr) c.974T>C (p.Ile325Thr) c.695T>C (p.Ile232Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397967A>T | CA378633004 | OAT | c.1295T>A (p.Ile432Asn) c.881T>A (p.Ile294Asn) c.974T>A (p.Ile325Asn) c.695T>A (p.Ile232Asn) | |
| 10 | g.124397968T>A | CA378633007 | OAT | c.1294A>T (p.Ile432Phe) c.880A>T (p.Ile294Phe) c.973A>T (p.Ile325Phe) c.694A>T (p.Ile232Phe) | ClinVar |
| 10 | g.124397968T>C | CA378633008 | OAT | c.1294A>G (p.Ile432Val) c.880A>G (p.Ile294Val) c.973A>G (p.Ile325Val) c.694A>G (p.Ile232Val) | |
| 10 | g.124397968T>G | CA378633009 | OAT | c.1294A>C (p.Ile432Leu) c.880A>C (p.Ile294Leu) c.973A>C (p.Ile325Leu) c.694A>C (p.Ile232Leu) | |
| 10 | g.124397969A>C | CA378633010 | OAT | c.1293T>G (p.Ile431Met) c.879T>G (p.Ile293Met) c.972T>G (p.Ile324Met) c.693T>G (p.Ile231Met) | |
| 10 | g.124397969A>G | CA471762494 | OAT | c.1293T>C (p.Ile431=) c.879T>C (p.Ile293=) c.972T>C (p.Ile324=) c.693T>C (p.Ile231=) | |
| 10 | g.124397969A>T | CA471762495 | OAT | c.1293T>A (p.Ile431=) c.879T>A (p.Ile293=) c.972T>A (p.Ile324=) c.693T>A (p.Ile231=) | ClinVar dbSNP |
| 10 | g.124397970A>C | CA378633011 | OAT | c.1292T>G (p.Ile431Ser) c.878T>G (p.Ile293Ser) c.971T>G (p.Ile324Ser) c.692T>G (p.Ile231Ser) | |
| 10 | g.124397970A>G | CA378633012 | OAT | c.1292T>C (p.Ile431Thr) c.878T>C (p.Ile293Thr) c.971T>C (p.Ile324Thr) c.692T>C (p.Ile231Thr) | |
| 10 | g.124397970A>T | CA378633013 | OAT | c.1292T>A (p.Ile431Asn) c.878T>A (p.Ile293Asn) c.971T>A (p.Ile324Asn) c.692T>A (p.Ile231Asn) | |
| 10 | g.124397971T>A | CA378633014 | OAT | c.1291A>T (p.Ile431Phe) c.877A>T (p.Ile293Phe) c.970A>T (p.Ile324Phe) c.691A>T (p.Ile231Phe) | |
| 10 | g.124397971T>C | CA5733275 | OAT | c.1291A>G (p.Ile431Val) c.877A>G (p.Ile293Val) c.970A>G (p.Ile324Val) c.691A>G (p.Ile231Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397971T>G | CA378633015 | OAT | c.1291A>C (p.Ile431Leu) c.877A>C (p.Ile293Leu) c.970A>C (p.Ile324Leu) c.691A>C (p.Ile231Leu) | |
| 10 | g.124397971T= | CA1942335639 | OAT | c.1291A= (p.Ile431=) c.877A= (p.Ile293=) c.970A= (p.Ile324=) c.691A= (p.Ile231=) | |
| 10 | g.124397972T>A | CA378633016 | OAT | c.1290A>T (p.Glu430Asp) c.876A>T (p.Glu292Asp) c.969A>T (p.Glu323Asp) c.690A>T (p.Glu230Asp) | |
| 10 | g.124397972T>C | CA471762496 | OAT | c.1290A>G (p.Glu430=) c.876A>G (p.Glu292=) c.969A>G (p.Glu323=) c.690A>G (p.Glu230=) | |
| 10 | g.124397972T>G | CA378633017 | OAT | c.1290A>C (p.Glu430Asp) c.876A>C (p.Glu292Asp) c.969A>C (p.Glu323Asp) c.690A>C (p.Glu230Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397972T= | CA1942335640 | OAT | c.1290A= (p.Glu430=) c.876A= (p.Glu292=) c.969A= (p.Glu323=) c.690A= (p.Glu230=) | |
| 10 | g.124397973T>A | CA5733276 | OAT | c.1289A>T (p.Glu430Val) c.875A>T (p.Glu292Val) c.968A>T (p.Glu323Val) c.689A>T (p.Glu230Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397973T>C | CA378633019 | OAT | c.1289A>G (p.Glu430Gly) c.875A>G (p.Glu292Gly) c.968A>G (p.Glu323Gly) c.689A>G (p.Glu230Gly) | |
| 10 | g.124397973T>G | CA378633018 | OAT | c.1289A>C (p.Glu430Ala) c.875A>C (p.Glu292Ala) c.968A>C (p.Glu323Ala) c.689A>C (p.Glu230Ala) | dbSNP gnomAD v4 |
| 10 | g.124397973T= | CA1942335641 | OAT | c.1289A= (p.Glu430=) c.875A= (p.Glu292=) c.968A= (p.Glu323=) c.689A= (p.Glu230=) | |
| 10 | g.124397974C>A | CA378633020 | OAT | c.1288G>T (p.Glu430Ter) c.874G>T (p.Glu292Ter) c.967G>T (p.Glu323Ter) c.688G>T (p.Glu230Ter) | |
| 10 | g.124397974C>G | CA378633021 | OAT | c.1288G>C (p.Glu430Gln) c.874G>C (p.Glu292Gln) c.967G>C (p.Glu323Gln) c.688G>C (p.Glu230Gln) | |
| 10 | g.124397974C>T | CA378633022 | OAT | c.1288G>A (p.Glu430Lys) c.874G>A (p.Glu292Lys) c.967G>A (p.Glu323Lys) c.688G>A (p.Glu230Lys) | |
| 10 | g.124397975A= | CA1942335642 | OAT | c.1287T= (p.Ile429=) c.873T= (p.Ile291=) c.966T= (p.Ile322=) c.687T= (p.Ile229=) | |
| 10 | g.124397975A>C | CA378633023 | OAT | c.1287T>G (p.Ile429Met) c.873T>G (p.Ile291Met) c.966T>G (p.Ile322Met) c.687T>G (p.Ile229Met) | |
| 10 | g.124397975A>G | CA471762497 | OAT | c.1287T>C (p.Ile429=) c.873T>C (p.Ile291=) c.966T>C (p.Ile322=) c.687T>C (p.Ile229=) | dbSNP |