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 |
|---|---|---|---|---|---|
| 20 | g.46725242T>A | CA409266556 | SLC2A10 | c.206T>A (p.Ile69Asn) n.358T>A c.269T>A (p.Ile90Asn) c.215T>A (p.Ile72Asn) n.405T>A n.392T>A | |
| 20 | g.46725242T>C | CA409266557 | SLC2A10 | c.206T>C (p.Ile69Thr) n.358T>C c.269T>C (p.Ile90Thr) c.215T>C (p.Ile72Thr) n.405T>C n.392T>C | ClinVar dbSNP |
| 20 | g.46725242T>G | CA409266558 | SLC2A10 | c.206T>G (p.Ile69Ser) n.358T>G c.269T>G (p.Ile90Ser) c.215T>G (p.Ile72Ser) n.405T>G n.392T>G | |
| 20 | g.46725242T= | CA2366796100 | SLC2A10 | c.206T= (p.Ile69=) n.358T= c.269T= (p.Ile90=) c.215T= (p.Ile72=) n.405T= n.392T= | |
| 20 | g.46725243T>A | CA510847467 | SLC2A10 | c.207T>A (p.Ile69=) n.359T>A c.270T>A (p.Ile90=) c.216T>A (p.Ile72=) n.406T>A n.393T>A | |
| 20 | g.46725243T>C | CA315755280 | SLC2A10 | c.207T>C (p.Ile69=) n.359T>C c.270T>C (p.Ile90=) c.216T>C (p.Ile72=) n.406T>C n.393T>C | dbSNP |
| 20 | g.46725243T>G | CA409266559 | SLC2A10 | c.207T>G (p.Ile69Met) n.359T>G c.270T>G (p.Ile90Met) c.216T>G (p.Ile72Met) n.406T>G n.393T>G | |
| 20 | g.46725243T= | CA2366796101 | SLC2A10 | c.207T= (p.Ile69=) n.359T= c.270T= (p.Ile90=) c.216T= (p.Ile72=) n.406T= n.393T= | |
| 20 | g.46725244G>A | CA409266560 | SLC2A10 | c.208G>A (p.Asp70Asn) n.360G>A c.271G>A (p.Asp91Asn) c.217G>A (p.Asp73Asn) n.407G>A n.394G>A | |
| 20 | g.46725244G>C | CA409266561 | SLC2A10 | c.208G>C (p.Asp70His) n.360G>C c.271G>C (p.Asp91His) c.217G>C (p.Asp73His) n.407G>C n.394G>C | |
| 20 | g.46725244G= | CA2366796102 | SLC2A10 | c.208G= (p.Asp70=) n.360G= c.271G= (p.Asp91=) c.217G= (p.Asp73=) n.407G= n.394G= | |
| 20 | g.46725244G>T | CA409266562 | SLC2A10 | c.208G>T (p.Asp70Tyr) n.360G>T c.271G>T (p.Asp91Tyr) c.217G>T (p.Asp73Tyr) n.407G>T n.394G>T | dbSNP |
| 20 | g.46725245A= | CA2366796103 | SLC2A10 | c.209A= (p.Asp70=) n.361A= c.272A= (p.Asp91=) c.218A= (p.Asp73=) n.408A= n.395A= | |
| 20 | g.46725245A>C | CA409266564 | SLC2A10 | c.209A>C (p.Asp70Ala) n.361A>C c.272A>C (p.Asp91Ala) c.218A>C (p.Asp73Ala) n.408A>C n.395A>C | |
| 20 | g.46725245A>G | CA409266565 | SLC2A10 | c.209A>G (p.Asp70Gly) n.361A>G c.272A>G (p.Asp91Gly) c.218A>G (p.Asp73Gly) n.408A>G n.395A>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.46725245A>T | CA409266563 | SLC2A10 | c.209A>T (p.Asp70Val) n.361A>T c.272A>T (p.Asp91Val) c.218A>T (p.Asp73Val) n.408A>T n.395A>T | |
| 20 | g.46725246C>A | CA409266566 | SLC2A10 | c.210C>A (p.Asp70Glu) n.362C>A c.273C>A (p.Asp91Glu) c.219C>A (p.Asp73Glu) n.409C>A n.396C>A | |
| 20 | g.46725246C>G | CA409266567 | SLC2A10 | c.210C>G (p.Asp70Glu) n.362C>G c.273C>G (p.Asp91Glu) c.219C>G (p.Asp73Glu) n.409C>G n.396C>G | |
| 20 | g.46725246C>T | CA510847468 | SLC2A10 | c.210C>T (p.Asp70=) n.362C>T c.273C>T (p.Asp91=) c.219C>T (p.Asp73=) n.409C>T n.396C>T | |
| 20 | g.46725247T>A | CA409266568 | SLC2A10 | c.211T>A (p.Cys71Ser) n.363T>A c.274T>A (p.Cys92Ser) c.220T>A (p.Cys74Ser) n.410T>A n.397T>A | |
| 20 | g.46725247T>C | CA409266569 | SLC2A10 | c.211T>C (p.Cys71Arg) n.363T>C c.274T>C (p.Cys92Arg) c.220T>C (p.Cys74Arg) n.410T>C n.397T>C | |
| 20 | g.46725247T>G | CA409266570 | SLC2A10 | c.211T>G (p.Cys71Gly) n.363T>G c.274T>G (p.Cys92Gly) c.220T>G (p.Cys74Gly) n.410T>G n.397T>G | |
| 20 | g.46725248G>A | CA409266572 | SLC2A10 | c.212G>A (p.Cys71Tyr) n.364G>A c.275G>A (p.Cys92Tyr) c.221G>A (p.Cys74Tyr) n.411G>A n.398G>A | |
| 20 | g.46725248G>C | CA409266571 | SLC2A10 | c.212G>C (p.Cys71Ser) n.364G>C c.275G>C (p.Cys92Ser) c.221G>C (p.Cys74Ser) n.411G>C n.398G>C | |
| 20 | g.46725248G= | CA2366796104 | SLC2A10 | c.212G= (p.Cys71=) n.364G= c.275G= (p.Cys92=) c.221G= (p.Cys74=) n.411G= n.398G= | |
| 20 | g.46725248G>T | CA9891930 | SLC2A10 | c.212G>T (p.Cys71Phe) n.364G>T c.275G>T (p.Cys92Phe) c.221G>T (p.Cys74Phe) n.411G>T n.398G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725249C>A | CA409266573 | SLC2A10 | c.213C>A (p.Cys71Ter) n.365C>A c.276C>A (p.Cys92Ter) c.222C>A (p.Cys74Ter) n.412C>A n.399C>A | |
| 20 | g.46725249C= | CA2366796105 | SLC2A10 | c.213C= (p.Cys71=) n.365C= c.276C= (p.Cys92=) c.222C= (p.Cys74=) n.412C= n.399C= | |
| 20 | g.46725249C>G | CA409266574 | SLC2A10 | c.213C>G (p.Cys71Trp) n.365C>G c.276C>G (p.Cys92Trp) c.222C>G (p.Cys74Trp) n.412C>G n.399C>G | |
| 20 | g.46725249C>T | CA9891931 | SLC2A10 | c.213C>T (p.Cys71=) n.365C>T c.276C>T (p.Cys92=) c.222C>T (p.Cys74=) n.412C>T n.399C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725250T>A | CA409266575 | SLC2A10 | c.214T>A (p.Tyr72Asn) n.366T>A c.277T>A (p.Tyr93Asn) c.223T>A (p.Tyr75Asn) n.413T>A n.400T>A | |
| 20 | g.46725250T>C | CA409266576 | SLC2A10 | c.214T>C (p.Tyr72His) n.366T>C c.277T>C (p.Tyr93His) c.223T>C (p.Tyr75His) n.413T>C n.400T>C | |
| 20 | g.46725250T>G | CA409266577 | SLC2A10 | c.214T>G (p.Tyr72Asp) n.366T>G c.277T>G (p.Tyr93Asp) c.223T>G (p.Tyr75Asp) n.413T>G n.400T>G | |
| 20 | g.46725251A>C | CA409266579 | SLC2A10 | c.215A>C (p.Tyr72Ser) n.367A>C c.278A>C (p.Tyr93Ser) c.224A>C (p.Tyr75Ser) n.414A>C n.401A>C | |
| 20 | g.46725251A>G | CA409266580 | SLC2A10 | c.215A>G (p.Tyr72Cys) n.367A>G c.278A>G (p.Tyr93Cys) c.224A>G (p.Tyr75Cys) n.414A>G n.401A>G | |
| 20 | g.46725251A>T | CA409266578 | SLC2A10 | c.215A>T (p.Tyr72Phe) n.367A>T c.278A>T (p.Tyr93Phe) c.224A>T (p.Tyr75Phe) n.414A>T n.401A>T | |
| 20 | g.46725252T>A | CA409266581 | SLC2A10 | c.216T>A (p.Tyr72Ter) n.368T>A c.279T>A (p.Tyr93Ter) c.225T>A (p.Tyr75Ter) n.415T>A n.402T>A | |
| 20 | g.46725252T>C | CA510847469 | SLC2A10 | c.216T>C (p.Tyr72=) n.368T>C c.279T>C (p.Tyr93=) c.225T>C (p.Tyr75=) n.415T>C n.402T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725252T>G | CA409266582 | SLC2A10 | c.216T>G (p.Tyr72Ter) n.368T>G c.279T>G (p.Tyr93Ter) c.225T>G (p.Tyr75Ter) n.415T>G n.402T>G | |
| 20 | g.46725252T= | CA2366796106 | SLC2A10 | c.216T= (p.Tyr72=) n.368T= c.279T= (p.Tyr93=) c.225T= (p.Tyr75=) n.415T= n.402T= | |
| 20 | g.46725253G>A | CA409266583 | SLC2A10 | c.217G>A (p.Gly73Ser) n.369G>A c.280G>A (p.Gly94Ser) c.226G>A (p.Gly76Ser) n.416G>A n.403G>A | |
| 20 | g.46725253G>C | CA409266584 | SLC2A10 | c.217G>C (p.Gly73Arg) n.369G>C c.280G>C (p.Gly94Arg) c.226G>C (p.Gly76Arg) n.416G>C n.403G>C | |
| 20 | g.46725253G>T | CA409266585 | SLC2A10 | c.217G>T (p.Gly73Cys) n.369G>T c.280G>T (p.Gly94Cys) c.226G>T (p.Gly76Cys) n.416G>T n.403G>T | gnomAD v4 |
| 20 | g.46725254G>A | CA409266586 | SLC2A10 | c.218G>A (p.Gly73Asp) n.370G>A c.281G>A (p.Gly94Asp) c.227G>A (p.Gly76Asp) n.417G>A n.404G>A | ClinVar dbSNP |
| 20 | g.46725254G>C | CA409266587 | SLC2A10 | c.218G>C (p.Gly73Ala) n.370G>C c.281G>C (p.Gly94Ala) c.227G>C (p.Gly76Ala) n.417G>C n.404G>C | |
| 20 | g.46725254G= | CA2366796107 | SLC2A10 | c.218G= (p.Gly73=) n.370G= c.281G= (p.Gly94=) c.227G= (p.Gly76=) n.417G= n.404G= | |
| 20 | g.46725254G>T | CA409266588 | SLC2A10 | c.218G>T (p.Gly73Val) n.370G>T c.281G>T (p.Gly94Val) c.227G>T (p.Gly76Val) n.417G>T n.404G>T | |
| 20 | g.46725255C>A | CA510847470 | SLC2A10 | c.219C>A (p.Gly73=) n.371C>A c.282C>A (p.Gly94=) c.228C>A (p.Gly76=) n.418C>A n.405C>A | |
| 20 | g.46725255C= | CA2366796108 | SLC2A10 | c.219C= (p.Gly73=) n.371C= c.282C= (p.Gly94=) c.228C= (p.Gly76=) n.418C= n.405C= | |
| 20 | g.46725255C>G | CA510847472 | SLC2A10 | c.219C>G (p.Gly73=) n.371C>G c.282C>G (p.Gly94=) c.228C>G (p.Gly76=) n.418C>G n.405C>G |