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 |
|---|---|---|---|---|---|
| 5 | g.156594953A>C | CA362010311 | SGCD | c.404A>C (p.Tyr135Ser) c.401A>C (p.Tyr134Ser) | |
| 5 | g.156594953A>G | CA362010316 | SGCD | c.404A>G (p.Tyr135Cys) c.401A>G (p.Tyr134Cys) | |
| 5 | g.156594953A>T | CA362010318 | SGCD | c.404A>T (p.Tyr135Phe) c.401A>T (p.Tyr134Phe) | |
| 5 | g.156594954T>A | CA362010319 | SGCD | c.405T>A (p.Tyr135Ter) c.402T>A (p.Tyr134Ter) | |
| 5 | g.156594954T>C | CA3530598 | SGCD | c.405T>C (p.Tyr135=) c.402T>C (p.Tyr134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.156594954T>G | CA362010320 | SGCD | c.405T>G (p.Tyr135Ter) c.402T>G (p.Tyr134Ter) | |
| 5 | g.156594954T= | CA1593779127 | SGCD | c.405T= (p.Tyr135=) c.402T= (p.Tyr134=) | |
| 5 | g.156594955G>A | CA362010325 | SGCD | c.406G>A (p.Gly136Ser) c.403G>A (p.Gly135Ser) | |
| 5 | g.156594955G>C | CA362010330 | SGCD | c.406G>C (p.Gly136Arg) c.403G>C (p.Gly135Arg) | |
| 5 | g.156594955G>T | CA362010333 | SGCD | c.406G>T (p.Gly136Cys) c.403G>T (p.Gly135Cys) | |
| 5 | g.156594956G>A | CA362010340 | SGCD | c.407G>A (p.Gly136Asp) c.404G>A (p.Gly135Asp) | |
| 5 | g.156594956G>C | CA362010336 | SGCD | c.407G>C (p.Gly136Ala) c.404G>C (p.Gly135Ala) | |
| 5 | g.156594956G>T | CA362010339 | SGCD | c.407G>T (p.Gly136Val) c.404G>T (p.Gly135Val) | |
| 5 | g.156594957T>A | CA447388100 | SGCD | c.408T>A (p.Gly136=) c.405T>A (p.Gly135=) | |
| 5 | g.156594957T>C | CA447388101 | SGCD | c.408T>C (p.Gly136=) c.405T>C (p.Gly135=) | dbSNP |
| 5 | g.156594957T>G | CA447388102 | SGCD | c.408T>G (p.Gly136=) c.405T>G (p.Gly135=) | |
| 5 | g.156594957T= | CA1593779128 | SGCD | c.408T= (p.Gly136=) c.405T= (p.Gly135=) | |
| 5 | g.156594957_156594958delinsTA | CA1593779129 | SGCD | c.408_409delinsTA (p.Gly136=) c.405_406delinsTA (p.Gly135=) | |
| 5 | g.156594958A>C | CA362010341 | SGCD | c.409A>C (p.Lys137Gln) c.406A>C (p.Lys136Gln) | |
| 5 | g.156594958A>G | CA362010343 | SGCD | c.409A>G (p.Lys137Glu) c.406A>G (p.Lys136Glu) | |
| 5 | g.156594958A>T | CA362010346 | SGCD | c.409A>T (p.Lys137Ter) c.406A>T (p.Lys136Ter) | |
| 5 | g.156594963dup | CA2676178499 | SGCD | c.414dup (p.Phe139IlefsTer2) c.411dup (p.Phe138IlefsTer2) | ClinVar gnomAD v4 |
| 5 | g.156594963del | CA563937671 | SGCD | c.414del (p.Lys138AsnfsTer4) c.411del (p.Lys137AsnfsTer4) | dbSNP gnomAD v2 |
| 5 | g.156594959A>C | CA362010347 | SGCD | c.410A>C (p.Lys137Thr) c.407A>C (p.Lys136Thr) | |
| 5 | g.156594959A>G | CA362010348 | SGCD | c.410A>G (p.Lys137Arg) c.407A>G (p.Lys136Arg) | |
| 5 | g.156594959A>T | CA362010350 | SGCD | c.410A>T (p.Lys137Ile) c.407A>T (p.Lys136Ile) | |
| 5 | g.156594960A>C | CA362010357 | SGCD | c.411A>C (p.Lys137Asn) c.408A>C (p.Lys136Asn) | gnomAD v4 |
| 5 | g.156594960A>G | CA447388103 | SGCD | c.411A>G (p.Lys137=) c.408A>G (p.Lys136=) | |
| 5 | g.156594960A>T | CA362010358 | SGCD | c.411A>T (p.Lys137Asn) c.408A>T (p.Lys136Asn) | |
| 5 | g.156594961A>C | CA362010364 | SGCD | c.412A>C (p.Lys138Gln) c.409A>C (p.Lys137Gln) | |
| 5 | g.156594961A>G | CA362010362 | SGCD | c.412A>G (p.Lys138Glu) c.409A>G (p.Lys137Glu) | |
| 5 | g.156594961A>T | CA362010361 | SGCD | c.412A>T (p.Lys138Ter) c.409A>T (p.Lys137Ter) | |
| 5 | g.156594962A= | CA1593779130 | SGCD | c.413A= (p.Lys138=) c.410A= (p.Lys137=) | |
| 5 | g.156594962A>C | CA362010367 | SGCD | c.413A>C (p.Lys138Thr) c.410A>C (p.Lys137Thr) | |
| 5 | g.156594962A>G | CA362010372 | SGCD | c.413A>G (p.Lys138Arg) c.410A>G (p.Lys137Arg) | ClinVar |
| 5 | g.156594962A>T | CA362010375 | SGCD | c.413A>T (p.Lys138Ile) c.410A>T (p.Lys137Ile) | ClinVar dbSNP |
| 5 | g.156594963A= | CA1593779131 | SGCD | c.414A= (p.Lys138=) c.411A= (p.Lys137=) | |
| 5 | g.156594963A>C | CA362010378 | SGCD | c.414A>C (p.Lys138Asn) c.411A>C (p.Lys137Asn) | |
| 5 | g.156594963A>G | CA447388104 | SGCD | c.414A>G (p.Lys138=) c.411A>G (p.Lys137=) | ClinVar |
| 5 | g.156594963A>T | CA362010380 | SGCD | c.414A>T (p.Lys138Asn) c.411A>T (p.Lys137Asn) | ClinVar dbSNP |
| 5 | g.156594964T>A | CA10606421 | SGCD | c.415T>A (p.Phe139Ile) c.412T>A (p.Phe138Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594964T>C | CA362010381 | SGCD | c.415T>C (p.Phe139Leu) c.412T>C (p.Phe138Leu) | |
| 5 | g.156594964T>G | CA362010383 | SGCD | c.415T>G (p.Phe139Val) c.412T>G (p.Phe138Val) | gnomAD v4 |
| 5 | g.156594964T= | CA1593779132 | SGCD | c.415T= (p.Phe139=) c.412T= (p.Phe138=) | |
| 5 | g.156594965T>A | CA362010386 | SGCD | c.416T>A (p.Phe139Tyr) c.413T>A (p.Phe138Tyr) | |
| 5 | g.156594965T>C | CA362010389 | SGCD | c.416T>C (p.Phe139Ser) c.413T>C (p.Phe138Ser) | gnomAD v4 |
| 5 | g.156594965T>G | CA362010393 | SGCD | c.416T>G (p.Phe139Cys) c.413T>G (p.Phe138Cys) | |
| 5 | g.156594966T>A | CA362010396 | SGCD | c.417T>A (p.Phe139Leu) c.414T>A (p.Phe138Leu) | |
| 5 | g.156594966T>C | CA447388105 | SGCD | c.417T>C (p.Phe139=) c.414T>C (p.Phe138=) | |
| 5 | g.156594966T>G | CA362010394 | SGCD | c.417T>G (p.Phe139Leu) c.414T>G (p.Phe138Leu) |