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 |
|---|---|---|---|---|---|
| 3 | g.39394480A>C | CA433164545 | SLC25A38 | c.648A>C (p.Ser216=) c.645A>C (p.Ser215=) c.642A>C (p.Ser214=) c.752A>C (p.His251Pro) c.696A>C (p.Ser232=) c.684A>C (p.Ser228=) c.678A>C (p.Ser226=) c.516A>C (p.Ser172=) c.626-1918A>C (n.626-1918A>C) | |
| 3 | g.39394480A>G | CA433164546 | SLC25A38 | c.648A>G (p.Ser216=) c.645A>G (p.Ser215=) c.642A>G (p.Ser214=) c.752A>G (p.His251Arg) c.696A>G (p.Ser232=) c.684A>G (p.Ser228=) c.678A>G (p.Ser226=) c.516A>G (p.Ser172=) c.626-1918A>G (n.626-1918A>G) | |
| 3 | g.39394480A>T | CA433164547 | SLC25A38 | c.648A>T (p.Ser216=) c.645A>T (p.Ser215=) c.642A>T (p.Ser214=) c.752A>T (p.His251Leu) c.696A>T (p.Ser232=) c.684A>T (p.Ser228=) c.678A>T (p.Ser226=) c.516A>T (p.Ser172=) c.626-1918A>T (n.626-1918A>T) | |
| 3 | g.39394481C>A | CA352205093 | SLC25A38 | c.649C>A (p.Leu217Met) c.646C>A (p.Leu216Met) c.643C>A (p.Leu215Met) c.753C>A (p.His251Gln) c.697C>A (p.Leu233Met) c.685C>A (p.Leu229Met) c.679C>A (p.Leu227Met) c.517C>A (p.Leu173Met) c.626-1917C>A (n.626-1917C>A) | |
| 3 | g.39394481C>G | CA352205095 | SLC25A38 | c.649C>G (p.Leu217Val) c.646C>G (p.Leu216Val) c.643C>G (p.Leu215Val) c.753C>G (p.His251Gln) c.697C>G (p.Leu233Val) c.685C>G (p.Leu229Val) c.679C>G (p.Leu227Val) c.517C>G (p.Leu173Val) c.626-1917C>G (n.626-1917C>G) | |
| 3 | g.39394481C>T | CA433164551 | SLC25A38 | c.649C>T (p.Leu217=) c.646C>T (p.Leu216=) c.643C>T (p.Leu215=) c.753C>T (p.His251=) c.697C>T (p.Leu233=) c.685C>T (p.Leu229=) c.679C>T (p.Leu227=) c.517C>T (p.Leu173=) c.626-1917C>T (n.626-1917C>T) | gnomAD v4 |
| 3 | g.39394482T>A | CA352205103 | SLC25A38 | c.650T>A (p.Leu217Gln) c.647T>A (p.Leu216Gln) c.644T>A (p.Leu215Gln) c.754T>A (p.Trp252Arg) c.698T>A (p.Leu233Gln) c.686T>A (p.Leu229Gln) c.680T>A (p.Leu227Gln) c.518T>A (p.Leu173Gln) c.626-1916T>A (n.626-1916T>A) | |
| 3 | g.39394482T>C | CA352205101 | SLC25A38 | c.650T>C (p.Leu217Pro) c.647T>C (p.Leu216Pro) c.644T>C (p.Leu215Pro) c.754T>C (p.Trp252Arg) c.698T>C (p.Leu233Pro) c.686T>C (p.Leu229Pro) c.680T>C (p.Leu227Pro) c.518T>C (p.Leu173Pro) c.626-1916T>C (n.626-1916T>C) | |
| 3 | g.39394482T>G | CA352205099 | SLC25A38 | c.650T>G (p.Leu217Arg) c.647T>G (p.Leu216Arg) c.644T>G (p.Leu215Arg) c.754T>G (p.Trp252Gly) c.698T>G (p.Leu233Arg) c.686T>G (p.Leu229Arg) c.680T>G (p.Leu227Arg) c.518T>G (p.Leu173Arg) c.626-1916T>G (n.626-1916T>G) | |
| 3 | g.39394483G>A | CA433164565 | SLC25A38 | c.651G>A (p.Leu217=) c.648G>A (p.Leu216=) c.645G>A (p.Leu215=) c.755G>A (p.Trp252Ter) c.699G>A (p.Leu233=) c.687G>A (p.Leu229=) c.681G>A (p.Leu227=) c.519G>A (p.Leu173=) c.626-1915G>A (n.626-1915G>A) | |
| 3 | g.39394483G>C | CA433164567 | SLC25A38 | c.651G>C (p.Leu217=) c.648G>C (p.Leu216=) c.645G>C (p.Leu215=) c.755G>C (p.Trp252Ser) c.699G>C (p.Leu233=) c.687G>C (p.Leu229=) c.681G>C (p.Leu227=) c.519G>C (p.Leu173=) c.626-1915G>C (n.626-1915G>C) | |
| 3 | g.39394483G>T | CA433164569 | SLC25A38 | c.651G>T (p.Leu217=) c.648G>T (p.Leu216=) c.645G>T (p.Leu215=) c.755G>T (p.Trp252Leu) c.699G>T (p.Leu233=) c.687G>T (p.Leu229=) c.681G>T (p.Leu227=) c.519G>T (p.Leu173=) c.626-1915G>T (n.626-1915G>T) | |
| 3 | g.39394484G>A | CA352205105 | SLC25A38 | c.652G>A (p.Val218Ile) c.649G>A (p.Val217Ile) c.646G>A (p.Val216Ile) c.756G>A (p.Trp252Ter) c.700G>A (p.Val234Ile) c.688G>A (p.Val230Ile) c.682G>A (p.Val228Ile) c.520G>A (p.Val174Ile) c.626-1914G>A (n.626-1914G>A) | |
| 3 | g.39394484G>C | CA352205107 | SLC25A38 | c.652G>C (p.Val218Leu) c.649G>C (p.Val217Leu) c.646G>C (p.Val216Leu) c.756G>C (p.Trp252Cys) c.700G>C (p.Val234Leu) c.688G>C (p.Val230Leu) c.682G>C (p.Val228Leu) c.520G>C (p.Val174Leu) c.626-1914G>C (n.626-1914G>C) | |
| 3 | g.39394484G>T | CA352205111 | SLC25A38 | c.652G>T (p.Val218Leu) c.649G>T (p.Val217Leu) c.646G>T (p.Val216Leu) c.756G>T (p.Trp252Cys) c.700G>T (p.Val234Leu) c.688G>T (p.Val230Leu) c.682G>T (p.Val228Leu) c.520G>T (p.Val174Leu) c.626-1914G>T (n.626-1914G>T) | |
| 3 | g.39394485T>A | CA352205116 | SLC25A38 | c.653T>A (p.Val218Glu) c.650T>A (p.Val217Glu) c.647T>A (p.Val216Glu) c.757T>A (p.Ter253Lys) c.701T>A (p.Val234Glu) c.689T>A (p.Val230Glu) c.683T>A (p.Val228Glu) c.521T>A (p.Val174Glu) c.626-1913T>A (n.626-1913T>A) | |
| 3 | g.39394485T>C | CA352205120 | SLC25A38 | c.653T>C (p.Val218Ala) c.650T>C (p.Val217Ala) c.647T>C (p.Val216Ala) c.757T>C (p.Ter253Gln) c.701T>C (p.Val234Ala) c.689T>C (p.Val230Ala) c.683T>C (p.Val228Ala) c.521T>C (p.Val174Ala) c.626-1913T>C (n.626-1913T>C) | |
| 3 | g.39394485T>G | CA352205121 | SLC25A38 | c.653T>G (p.Val218Gly) c.650T>G (p.Val217Gly) c.647T>G (p.Val216Gly) c.757T>G (p.Ter253Glu) c.701T>G (p.Val234Gly) c.689T>G (p.Val230Gly) c.683T>G (p.Val228Gly) c.521T>G (p.Val174Gly) c.626-1913T>G (n.626-1913T>G) | |
| 3 | g.39394486A= | CA1358939299 | SLC25A38 | c.654A= (p.Val218=) c.651A= (p.Val217=) c.648A= (p.Val216=) c.758A= (p.Ter253=) c.702A= (p.Val234=) c.690A= (p.Val230=) c.684A= (p.Val228=) c.522A= (p.Val174=) c.626-1912A= (n.626-1912A=) | |
| 3 | g.39394486A>C | CA433164586 | SLC25A38 | c.654A>C (p.Val218=) c.651A>C (p.Val217=) c.648A>C (p.Val216=) c.758A>C (p.Ter253Ser) c.702A>C (p.Val234=) c.690A>C (p.Val230=) c.684A>C (p.Val228=) c.522A>C (p.Val174=) c.626-1912A>C (n.626-1912A>C) | |
| 3 | g.39394486A>G | CA73040721 | SLC25A38 | c.654A>G (p.Val218=) c.651A>G (p.Val217=) c.648A>G (p.Val216=) c.758A>G (p.Ter253=) c.702A>G (p.Val234=) c.690A>G (p.Val230=) c.684A>G (p.Val228=) c.522A>G (p.Val174=) c.626-1912A>G (n.626-1912A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.39394486A>T | CA433164593 | SLC25A38 | c.654A>T (p.Val218=) c.651A>T (p.Val217=) c.648A>T (p.Val216=) c.758A>T (p.Ter253Leu) c.702A>T (p.Val234=) c.690A>T (p.Val230=) c.684A>T (p.Val228=) c.522A>T (p.Val174=) c.626-1912A>T (n.626-1912A>T) | |
| 3 | g.39394487A>C | CA352205122 | SLC25A38 | c.655A>C (p.Thr219Pro) c.652A>C (p.Thr218Pro) c.649A>C (p.Thr217Pro) c.759A>C (p.Ter253Tyr) c.703A>C (p.Thr235Pro) c.691A>C (p.Thr231Pro) c.685A>C (p.Thr229Pro) c.523A>C (p.Thr175Pro) c.626-1911A>C (n.626-1911A>C) | |
| 3 | g.39394487A>G | CA352205124 | SLC25A38 | c.655A>G (p.Thr219Ala) c.652A>G (p.Thr218Ala) c.649A>G (p.Thr217Ala) c.759A>G (p.Ter253=) c.703A>G (p.Thr235Ala) c.691A>G (p.Thr231Ala) c.685A>G (p.Thr229Ala) c.523A>G (p.Thr175Ala) c.626-1911A>G (n.626-1911A>G) | gnomAD v4 |
| 3 | g.39394487A>T | CA352205127 | SLC25A38 | c.655A>T (p.Thr219Ser) c.652A>T (p.Thr218Ser) c.649A>T (p.Thr217Ser) c.759A>T (p.Ter253Tyr) c.703A>T (p.Thr235Ser) c.691A>T (p.Thr231Ser) c.685A>T (p.Thr229Ser) c.523A>T (p.Thr175Ser) c.626-1911A>T (n.626-1911A>T) | |
| 3 | g.39394488C>A | CA352205130 | SLC25A38 | c.656C>A (p.Thr219Asn) c.653C>A (p.Thr218Asn) c.650C>A (p.Thr217Asn) c.*1C>A (n.*1C>A) c.704C>A (p.Thr235Asn) c.692C>A (p.Thr231Asn) c.686C>A (p.Thr229Asn) c.524C>A (p.Thr175Asn) c.626-1910C>A (n.626-1910C>A) | |
| 3 | g.39394488C>G | CA352205145 | SLC25A38 | c.656C>G (p.Thr219Ser) c.653C>G (p.Thr218Ser) c.650C>G (p.Thr217Ser) c.*1C>G (n.*1C>G) c.704C>G (p.Thr235Ser) c.692C>G (p.Thr231Ser) c.686C>G (p.Thr229Ser) c.524C>G (p.Thr175Ser) c.626-1910C>G (n.626-1910C>G) | |
| 3 | g.39394488C>T | CA352205147 | SLC25A38 | c.656C>T (p.Thr219Ile) c.653C>T (p.Thr218Ile) c.650C>T (p.Thr217Ile) c.*1C>T (n.*1C>T) c.704C>T (p.Thr235Ile) c.692C>T (p.Thr231Ile) c.686C>T (p.Thr229Ile) c.524C>T (p.Thr175Ile) c.626-1910C>T (n.626-1910C>T) | |
| 3 | g.39394489T>A | CA433164604 | SLC25A38 | c.657T>A (p.Thr219=) c.654T>A (p.Thr218=) c.651T>A (p.Thr217=) c.*2T>A (n.*2T>A) c.705T>A (p.Thr235=) c.693T>A (p.Thr231=) c.687T>A (p.Thr229=) c.525T>A (p.Thr175=) c.626-1909T>A (n.626-1909T>A) | |
| 3 | g.39394489T>C | CA433164607 | SLC25A38 | c.657T>C (p.Thr219=) c.654T>C (p.Thr218=) c.651T>C (p.Thr217=) c.*2T>C (n.*2T>C) c.705T>C (p.Thr235=) c.693T>C (p.Thr231=) c.687T>C (p.Thr229=) c.525T>C (p.Thr175=) c.626-1909T>C (n.626-1909T>C) | |
| 3 | g.39394489T>G | CA433164610 | SLC25A38 | c.657T>G (p.Thr219=) c.654T>G (p.Thr218=) c.651T>G (p.Thr217=) c.*2T>G (n.*2T>G) c.705T>G (p.Thr235=) c.693T>G (p.Thr231=) c.687T>G (p.Thr229=) c.525T>G (p.Thr175=) c.626-1909T>G (n.626-1909T>G) | |
| 3 | g.39394490C>A | CA352205152 | SLC25A38 | c.658C>A (p.Gln220Lys) c.655C>A (p.Gln219Lys) c.652C>A (p.Gln218Lys) c.*3C>A (n.*3C>A) c.706C>A (p.Gln236Lys) c.694C>A (p.Gln232Lys) c.688C>A (p.Gln230Lys) c.526C>A (p.Gln176Lys) c.626-1908C>A (n.626-1908C>A) | |
| 3 | g.39394490C= | CA1358939300 | SLC25A38 | c.658C= (p.Gln220=) c.655C= (p.Gln219=) c.652C= (p.Gln218=) c.*3C= (n.*3C=) c.706C= (p.Gln236=) c.694C= (p.Gln232=) c.688C= (p.Gln230=) c.526C= (p.Gln176=) c.626-1908C= (n.626-1908C=) | |
| 3 | g.39394490C>G | CA352205154 | SLC25A38 | c.658C>G (p.Gln220Glu) c.655C>G (p.Gln219Glu) c.652C>G (p.Gln218Glu) c.*3C>G (n.*3C>G) c.706C>G (p.Gln236Glu) c.694C>G (p.Gln232Glu) c.688C>G (p.Gln230Glu) c.526C>G (p.Gln176Glu) c.626-1908C>G (n.626-1908C>G) | |
| 3 | g.39394490C>T | CA2327534 | SLC25A38 | c.658C>T (p.Gln220Ter) c.655C>T (p.Gln219Ter) c.652C>T (p.Gln218Ter) c.*3C>T (n.*3C>T) c.706C>T (p.Gln236Ter) c.694C>T (p.Gln232Ter) c.688C>T (p.Gln230Ter) c.526C>T (p.Gln176Ter) c.626-1908C>T (n.626-1908C>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.39394491A>C | CA352205157 | SLC25A38 | c.659A>C (p.Gln220Pro) c.656A>C (p.Gln219Pro) c.653A>C (p.Gln218Pro) c.*4A>C (n.*4A>C) c.707A>C (p.Gln236Pro) c.695A>C (p.Gln232Pro) c.689A>C (p.Gln230Pro) c.527A>C (p.Gln176Pro) c.626-1907A>C (n.626-1907A>C) | |
| 3 | g.39394491A>G | CA352205155 | SLC25A38 | c.659A>G (p.Gln220Arg) c.656A>G (p.Gln219Arg) c.653A>G (p.Gln218Arg) c.*4A>G (n.*4A>G) c.707A>G (p.Gln236Arg) c.695A>G (p.Gln232Arg) c.689A>G (p.Gln230Arg) c.527A>G (p.Gln176Arg) c.626-1907A>G (n.626-1907A>G) | |
| 3 | g.39394491A>T | CA352205156 | SLC25A38 | c.659A>T (p.Gln220Leu) c.656A>T (p.Gln219Leu) c.653A>T (p.Gln218Leu) c.*4A>T (n.*4A>T) c.707A>T (p.Gln236Leu) c.695A>T (p.Gln232Leu) c.689A>T (p.Gln230Leu) c.527A>T (p.Gln176Leu) c.626-1907A>T (n.626-1907A>T) | |
| 3 | g.39394492A>C | CA352205161 | SLC25A38 | c.660A>C (p.Gln220His) c.657A>C (p.Gln219His) c.654A>C (p.Gln218His) c.*5A>C (n.*5A>C) c.708A>C (p.Gln236His) c.696A>C (p.Gln232His) c.690A>C (p.Gln230His) c.528A>C (p.Gln176His) c.626-1906A>C (n.626-1906A>C) | |
| 3 | g.39394492A>G | CA433164633 | SLC25A38 | c.660A>G (p.Gln220=) c.657A>G (p.Gln219=) c.654A>G (p.Gln218=) c.*5A>G (n.*5A>G) c.708A>G (p.Gln236=) c.696A>G (p.Gln232=) c.690A>G (p.Gln230=) c.528A>G (p.Gln176=) c.626-1906A>G (n.626-1906A>G) | |
| 3 | g.39394492A>T | CA352205163 | SLC25A38 | c.660A>T (p.Gln220His) c.657A>T (p.Gln219His) c.654A>T (p.Gln218His) c.*5A>T (n.*5A>T) c.708A>T (p.Gln236His) c.696A>T (p.Gln232His) c.690A>T (p.Gln230His) c.528A>T (p.Gln176His) c.626-1906A>T (n.626-1906A>T) | |
| 3 | g.39394493C>A | CA352205167 | SLC25A38 | c.661C>A (p.Pro221Thr) c.658C>A (p.Pro220Thr) c.655C>A (p.Pro219Thr) c.*6C>A (n.*6C>A) c.709C>A (p.Pro237Thr) c.697C>A (p.Pro233Thr) c.691C>A (p.Pro231Thr) c.529C>A (p.Pro177Thr) c.626-1905C>A (n.626-1905C>A) | dbSNP |
| 3 | g.39394493C= | CA1358939301 | SLC25A38 | c.661C= (p.Pro221=) c.658C= (p.Pro220=) c.655C= (p.Pro219=) c.*6C= (n.*6C=) c.709C= (p.Pro237=) c.697C= (p.Pro233=) c.691C= (p.Pro231=) c.529C= (p.Pro177=) c.626-1905C= (n.626-1905C=) | |
| 3 | g.39394493C>G | CA352205176 | SLC25A38 | c.661C>G (p.Pro221Ala) c.658C>G (p.Pro220Ala) c.655C>G (p.Pro219Ala) c.*6C>G (n.*6C>G) c.709C>G (p.Pro237Ala) c.697C>G (p.Pro233Ala) c.691C>G (p.Pro231Ala) c.529C>G (p.Pro177Ala) c.626-1905C>G (n.626-1905C>G) | |
| 3 | g.39394493C>T | CA352205185 | SLC25A38 | c.661C>T (p.Pro221Ser) c.658C>T (p.Pro220Ser) c.655C>T (p.Pro219Ser) c.*6C>T (n.*6C>T) c.709C>T (p.Pro237Ser) c.697C>T (p.Pro233Ser) c.691C>T (p.Pro231Ser) c.529C>T (p.Pro177Ser) c.626-1905C>T (n.626-1905C>T) | dbSNP |
| 3 | g.39394494C>A | CA352205209 | SLC25A38 | c.662C>A (p.Pro221His) c.659C>A (p.Pro220His) c.656C>A (p.Pro219His) c.*7C>A (n.*7C>A) c.710C>A (p.Pro237His) c.698C>A (p.Pro233His) c.692C>A (p.Pro231His) c.530C>A (p.Pro177His) c.626-1904C>A (n.626-1904C>A) | |
| 3 | g.39394494C>G | CA352205211 | SLC25A38 | c.662C>G (p.Pro221Arg) c.659C>G (p.Pro220Arg) c.656C>G (p.Pro219Arg) c.*7C>G (n.*7C>G) c.710C>G (p.Pro237Arg) c.698C>G (p.Pro233Arg) c.692C>G (p.Pro231Arg) c.530C>G (p.Pro177Arg) c.626-1904C>G (n.626-1904C>G) | |
| 3 | g.39394494C>T | CA352205215 | SLC25A38 | c.662C>T (p.Pro221Leu) c.659C>T (p.Pro220Leu) c.656C>T (p.Pro219Leu) c.*7C>T (n.*7C>T) c.710C>T (p.Pro237Leu) c.698C>T (p.Pro233Leu) c.692C>T (p.Pro231Leu) c.530C>T (p.Pro177Leu) c.626-1904C>T (n.626-1904C>T) | |
| 3 | g.39394495T>A | CA433164659 | SLC25A38 | c.663T>A (p.Pro221=) c.660T>A (p.Pro220=) c.657T>A (p.Pro219=) c.*8T>A (n.*8T>A) c.711T>A (p.Pro237=) c.699T>A (p.Pro233=) c.693T>A (p.Pro231=) c.531T>A (p.Pro177=) c.626-1903T>A (n.626-1903T>A) | gnomAD v4 |
| 3 | g.39394495T>C | CA433164652 | SLC25A38 | c.663T>C (p.Pro221=) c.660T>C (p.Pro220=) c.657T>C (p.Pro219=) c.*8T>C (n.*8T>C) c.711T>C (p.Pro237=) c.699T>C (p.Pro233=) c.693T>C (p.Pro231=) c.531T>C (p.Pro177=) c.626-1903T>C (n.626-1903T>C) |