WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73621897T>A | CA450910905 | SLC17A5 | c.885A>T (p.Val295=) c.834A>T (p.Val278=) c.687A>T (p.Val229=) c.654A>T (p.Val218=) c.906A>T (p.Val302=) c.798A>T (p.Val266=) c.820-6450A>T (n.820-6450A>T) c.882A>T (p.Val294=) c.567A>T (p.Val189=) | |
| 6 | g.73621897T>C | CA450910903 | SLC17A5 | c.885A>G (p.Val295=) c.834A>G (p.Val278=) c.687A>G (p.Val229=) c.654A>G (p.Val218=) c.906A>G (p.Val302=) c.798A>G (p.Val266=) c.820-6450A>G (n.820-6450A>G) c.882A>G (p.Val294=) c.567A>G (p.Val189=) | gnomAD v4 |
| 6 | g.73621897T>G | CA450910904 | SLC17A5 | c.885A>C (p.Val295=) c.834A>C (p.Val278=) c.687A>C (p.Val229=) c.654A>C (p.Val218=) c.906A>C (p.Val302=) c.798A>C (p.Val266=) c.820-6450A>C (n.820-6450A>C) c.882A>C (p.Val294=) c.567A>C (p.Val189=) | |
| 6 | g.73621898A>C | CA364713590 | SLC17A5 | c.884T>G (p.Val295Gly) c.833T>G (p.Val278Gly) c.686T>G (p.Val229Gly) c.653T>G (p.Val218Gly) c.905T>G (p.Val302Gly) c.797T>G (p.Val266Gly) c.820-6451T>G (n.820-6451T>G) c.881T>G (p.Val294Gly) c.566T>G (p.Val189Gly) | |
| 6 | g.73621898A>G | CA364713592 | SLC17A5 | c.884T>C (p.Val295Ala) c.833T>C (p.Val278Ala) c.686T>C (p.Val229Ala) c.653T>C (p.Val218Ala) c.905T>C (p.Val302Ala) c.797T>C (p.Val266Ala) c.820-6451T>C (n.820-6451T>C) c.881T>C (p.Val294Ala) c.566T>C (p.Val189Ala) | |
| 6 | g.73621898A>T | CA364713594 | SLC17A5 | c.884T>A (p.Val295Glu) c.833T>A (p.Val278Glu) c.686T>A (p.Val229Glu) c.653T>A (p.Val218Glu) c.905T>A (p.Val302Glu) c.797T>A (p.Val266Glu) c.820-6451T>A (n.820-6451T>A) c.881T>A (p.Val294Glu) c.566T>A (p.Val189Glu) | |
| 6 | g.73621899C>A | CA364713596 | SLC17A5 | c.883G>T (p.Val295Leu) c.832G>T (p.Val278Leu) c.685G>T (p.Val229Leu) c.652G>T (p.Val218Leu) c.904G>T (p.Val302Leu) c.796G>T (p.Val266Leu) c.820-6452G>T (n.820-6452G>T) c.880G>T (p.Val294Leu) c.565G>T (p.Val189Leu) | |
| 6 | g.73621899C= | CA1638234798 | SLC17A5 | c.883G= (p.Val295=) c.832G= (p.Val278=) c.685G= (p.Val229=) c.652G= (p.Val218=) c.904G= (p.Val302=) c.796G= (p.Val266=) c.820-6452G= (n.820-6452G=) c.880G= (p.Val294=) c.565G= (p.Val189=) | |
| 6 | g.73621899C>G | CA364713597 | SLC17A5 | c.883G>C (p.Val295Leu) c.832G>C (p.Val278Leu) c.685G>C (p.Val229Leu) c.652G>C (p.Val218Leu) c.904G>C (p.Val302Leu) c.796G>C (p.Val266Leu) c.820-6452G>C (n.820-6452G>C) c.880G>C (p.Val294Leu) c.565G>C (p.Val189Leu) | |
| 6 | g.73621899C>T | CA3890400 | SLC17A5 | c.883G>A (p.Val295Ile) c.832G>A (p.Val278Ile) c.685G>A (p.Val229Ile) c.652G>A (p.Val218Ile) c.904G>A (p.Val302Ile) c.796G>A (p.Val266Ile) c.820-6452G>A (n.820-6452G>A) c.880G>A (p.Val294Ile) c.565G>A (p.Val189Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621900G>A | CA450910907 | SLC17A5 | c.882C>T (p.Ile294=) c.831C>T (p.Ile277=) c.684C>T (p.Ile228=) c.651C>T (p.Ile217=) c.903C>T (p.Ile301=) c.795C>T (p.Ile265=) c.820-6453C>T (n.820-6453C>T) c.879C>T (p.Ile293=) c.564C>T (p.Ile188=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.73621900G>C | CA364713602 | SLC17A5 | c.882C>G (p.Ile294Met) c.831C>G (p.Ile277Met) c.684C>G (p.Ile228Met) c.651C>G (p.Ile217Met) c.903C>G (p.Ile301Met) c.795C>G (p.Ile265Met) c.820-6453C>G (n.820-6453C>G) c.879C>G (p.Ile293Met) c.564C>G (p.Ile188Met) | |
| 6 | g.73621900G= | CA1638234799 | SLC17A5 | c.882C= (p.Ile294=) c.831C= (p.Ile277=) c.684C= (p.Ile228=) c.651C= (p.Ile217=) c.903C= (p.Ile301=) c.795C= (p.Ile265=) c.820-6453C= (n.820-6453C=) c.879C= (p.Ile293=) c.564C= (p.Ile188=) | |
| 6 | g.73621900G>T | CA450910906 | SLC17A5 | c.882C>A (p.Ile294=) c.831C>A (p.Ile277=) c.684C>A (p.Ile228=) c.651C>A (p.Ile217=) c.903C>A (p.Ile301=) c.795C>A (p.Ile265=) c.820-6453C>A (n.820-6453C>A) c.879C>A (p.Ile293=) c.564C>A (p.Ile188=) | |
| 6 | g.73621901A= | CA1638234800 | SLC17A5 | c.881T= (p.Ile294=) c.830T= (p.Ile277=) c.683T= (p.Ile228=) c.650T= (p.Ile217=) c.902T= (p.Ile301=) c.794T= (p.Ile265=) c.820-6454T= (n.820-6454T=) c.878T= (p.Ile293=) c.563T= (p.Ile188=) | |
| 6 | g.73621901A>C | CA364713604 | SLC17A5 | c.881T>G (p.Ile294Ser) c.830T>G (p.Ile277Ser) c.683T>G (p.Ile228Ser) c.650T>G (p.Ile217Ser) c.902T>G (p.Ile301Ser) c.794T>G (p.Ile265Ser) c.820-6454T>G (n.820-6454T>G) c.878T>G (p.Ile293Ser) c.563T>G (p.Ile188Ser) | |
| 6 | g.73621901A>G | CA364713606 | SLC17A5 | c.881T>C (p.Ile294Thr) c.830T>C (p.Ile277Thr) c.683T>C (p.Ile228Thr) c.650T>C (p.Ile217Thr) c.902T>C (p.Ile301Thr) c.794T>C (p.Ile265Thr) c.820-6454T>C (n.820-6454T>C) c.878T>C (p.Ile293Thr) c.563T>C (p.Ile188Thr) | dbSNP |
| 6 | g.73621901A>T | CA364713608 | SLC17A5 | c.881T>A (p.Ile294Asn) c.830T>A (p.Ile277Asn) c.683T>A (p.Ile228Asn) c.650T>A (p.Ile217Asn) c.902T>A (p.Ile301Asn) c.794T>A (p.Ile265Asn) c.820-6454T>A (n.820-6454T>A) c.878T>A (p.Ile293Asn) c.563T>A (p.Ile188Asn) | |
| 6 | g.73621902T>A | CA364713613 | SLC17A5 | c.880A>T (p.Ile294Phe) c.829A>T (p.Ile277Phe) c.682A>T (p.Ile228Phe) c.649A>T (p.Ile217Phe) c.901A>T (p.Ile301Phe) c.793A>T (p.Ile265Phe) c.820-6455A>T (n.820-6455A>T) c.877A>T (p.Ile293Phe) c.562A>T (p.Ile188Phe) | |
| 6 | g.73621902T>C | CA364713611 | SLC17A5 | c.880A>G (p.Ile294Val) c.829A>G (p.Ile277Val) c.682A>G (p.Ile228Val) c.649A>G (p.Ile217Val) c.901A>G (p.Ile301Val) c.793A>G (p.Ile265Val) c.820-6455A>G (n.820-6455A>G) c.877A>G (p.Ile293Val) c.562A>G (p.Ile188Val) | dbSNP |
| 6 | g.73621902T>G | CA3890401 | SLC17A5 | c.880A>C (p.Ile294Leu) c.829A>C (p.Ile277Leu) c.682A>C (p.Ile228Leu) c.649A>C (p.Ile217Leu) c.901A>C (p.Ile301Leu) c.793A>C (p.Ile265Leu) c.820-6455A>C (n.820-6455A>C) c.877A>C (p.Ile293Leu) c.562A>C (p.Ile188Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.73621902T= | CA1638234801 | SLC17A5 | c.880A= (p.Ile294=) c.829A= (p.Ile277=) c.682A= (p.Ile228=) c.649A= (p.Ile217=) c.901A= (p.Ile301=) c.793A= (p.Ile265=) c.820-6455A= (n.820-6455A=) c.877A= (p.Ile293=) c.562A= (p.Ile188=) | |
| 6 | g.73621903A= | CA1638234802 | SLC17A5 | c.879T= (p.Ala293=) c.828T= (p.Ala276=) c.681T= (p.Ala227=) c.648T= (p.Ala216=) c.900T= (p.Ala300=) c.792T= (p.Ala264=) c.820-6456T= (n.820-6456T=) c.876T= (p.Ala292=) c.561T= (p.Ala187=) | |
| 6 | g.73621903A>C | CA450910908 | SLC17A5 | c.879T>G (p.Ala293=) c.828T>G (p.Ala276=) c.681T>G (p.Ala227=) c.648T>G (p.Ala216=) c.900T>G (p.Ala300=) c.792T>G (p.Ala264=) c.820-6456T>G (n.820-6456T>G) c.876T>G (p.Ala292=) c.561T>G (p.Ala187=) | |
| 6 | g.73621903A>G | CA3890402 | SLC17A5 | c.879T>C (p.Ala293=) c.828T>C (p.Ala276=) c.681T>C (p.Ala227=) c.648T>C (p.Ala216=) c.900T>C (p.Ala300=) c.792T>C (p.Ala264=) c.820-6456T>C (n.820-6456T>C) c.876T>C (p.Ala292=) c.561T>C (p.Ala187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621903A>T | CA450910909 | SLC17A5 | c.879T>A (p.Ala293=) c.828T>A (p.Ala276=) c.681T>A (p.Ala227=) c.648T>A (p.Ala216=) c.900T>A (p.Ala300=) c.792T>A (p.Ala264=) c.820-6456T>A (n.820-6456T>A) c.876T>A (p.Ala292=) c.561T>A (p.Ala187=) | |
| 6 | g.73621904G>A | CA364713619 | SLC17A5 | c.878C>T (p.Ala293Val) c.827C>T (p.Ala276Val) c.680C>T (p.Ala227Val) c.647C>T (p.Ala216Val) c.899C>T (p.Ala300Val) c.791C>T (p.Ala264Val) c.820-6457C>T (n.820-6457C>T) c.875C>T (p.Ala292Val) c.560C>T (p.Ala187Val) | |
| 6 | g.73621904G>C | CA364713621 | SLC17A5 | c.878C>G (p.Ala293Gly) c.827C>G (p.Ala276Gly) c.680C>G (p.Ala227Gly) c.647C>G (p.Ala216Gly) c.899C>G (p.Ala300Gly) c.791C>G (p.Ala264Gly) c.820-6457C>G (n.820-6457C>G) c.875C>G (p.Ala292Gly) c.560C>G (p.Ala187Gly) | |
| 6 | g.73621904G>T | CA364713623 | SLC17A5 | c.878C>A (p.Ala293Asp) c.827C>A (p.Ala276Asp) c.680C>A (p.Ala227Asp) c.647C>A (p.Ala216Asp) c.899C>A (p.Ala300Asp) c.791C>A (p.Ala264Asp) c.820-6457C>A (n.820-6457C>A) c.875C>A (p.Ala292Asp) c.560C>A (p.Ala187Asp) | |
| 6 | g.73621905C>A | CA364713625 | SLC17A5 | c.877G>T (p.Ala293Ser) c.826G>T (p.Ala276Ser) c.679G>T (p.Ala227Ser) c.646G>T (p.Ala216Ser) c.898G>T (p.Ala300Ser) c.790G>T (p.Ala264Ser) c.820-6458G>T (n.820-6458G>T) c.874G>T (p.Ala292Ser) c.559G>T (p.Ala187Ser) | gnomAD v4 |
| 6 | g.73621905C>G | CA364713627 | SLC17A5 | c.877G>C (p.Ala293Pro) c.826G>C (p.Ala276Pro) c.679G>C (p.Ala227Pro) c.646G>C (p.Ala216Pro) c.898G>C (p.Ala300Pro) c.790G>C (p.Ala264Pro) c.820-6458G>C (n.820-6458G>C) c.874G>C (p.Ala292Pro) c.559G>C (p.Ala187Pro) | |
| 6 | g.73621905C>T | CA364713630 | SLC17A5 | c.877G>A (p.Ala293Thr) c.826G>A (p.Ala276Thr) c.679G>A (p.Ala227Thr) c.646G>A (p.Ala216Thr) c.898G>A (p.Ala300Thr) c.790G>A (p.Ala264Thr) c.820-6458G>A (n.820-6458G>A) c.874G>A (p.Ala292Thr) c.559G>A (p.Ala187Thr) | gnomAD v4 |
| 6 | g.73621906C>A | CA364713631 | SLC17A5 | c.876G>T (p.Trp292Cys) c.825G>T (p.Trp275Cys) c.678G>T (p.Trp226Cys) c.645G>T (p.Trp215Cys) c.897G>T (p.Trp299Cys) c.789G>T (p.Trp263Cys) c.820-6459G>T (n.820-6459G>T) c.873G>T (p.Trp291Cys) c.558G>T (p.Trp186Cys) | |
| 6 | g.73621906C>G | CA364713634 | SLC17A5 | c.876G>C (p.Trp292Cys) c.825G>C (p.Trp275Cys) c.678G>C (p.Trp226Cys) c.645G>C (p.Trp215Cys) c.897G>C (p.Trp299Cys) c.789G>C (p.Trp263Cys) c.820-6459G>C (n.820-6459G>C) c.873G>C (p.Trp291Cys) c.558G>C (p.Trp186Cys) | |
| 6 | g.73621906C>T | CA364713636 | SLC17A5 | c.876G>A (p.Trp292Ter) c.825G>A (p.Trp275Ter) c.678G>A (p.Trp226Ter) c.645G>A (p.Trp215Ter) c.897G>A (p.Trp299Ter) c.789G>A (p.Trp263Ter) c.820-6459G>A (n.820-6459G>A) c.873G>A (p.Trp291Ter) c.558G>A (p.Trp186Ter) | |
| 6 | g.73621907C>A | CA364713641 | SLC17A5 | c.875G>T (p.Trp292Leu) c.824G>T (p.Trp275Leu) c.677G>T (p.Trp226Leu) c.644G>T (p.Trp215Leu) c.896G>T (p.Trp299Leu) c.788G>T (p.Trp263Leu) c.820-6460G>T (n.820-6460G>T) c.872G>T (p.Trp291Leu) c.557G>T (p.Trp186Leu) | |
| 6 | g.73621907C>G | CA364713643 | SLC17A5 | c.875G>C (p.Trp292Ser) c.824G>C (p.Trp275Ser) c.677G>C (p.Trp226Ser) c.644G>C (p.Trp215Ser) c.896G>C (p.Trp299Ser) c.788G>C (p.Trp263Ser) c.820-6460G>C (n.820-6460G>C) c.872G>C (p.Trp291Ser) c.557G>C (p.Trp186Ser) | |
| 6 | g.73621907C>T | CA364713639 | SLC17A5 | c.875G>A (p.Trp292Ter) c.824G>A (p.Trp275Ter) c.677G>A (p.Trp226Ter) c.644G>A (p.Trp215Ter) c.896G>A (p.Trp299Ter) c.788G>A (p.Trp263Ter) c.820-6460G>A (n.820-6460G>A) c.872G>A (p.Trp291Ter) c.557G>A (p.Trp186Ter) | gnomAD v4 |
| 6 | g.73621908A>C | CA364713646 | SLC17A5 | c.874T>G (p.Trp292Gly) c.823T>G (p.Trp275Gly) c.676T>G (p.Trp226Gly) c.643T>G (p.Trp215Gly) c.895T>G (p.Trp299Gly) c.787T>G (p.Trp263Gly) c.820-6461T>G (n.820-6461T>G) c.871T>G (p.Trp291Gly) c.556T>G (p.Trp186Gly) | |
| 6 | g.73621908A>G | CA364713647 | SLC17A5 | c.874T>C (p.Trp292Arg) c.823T>C (p.Trp275Arg) c.676T>C (p.Trp226Arg) c.643T>C (p.Trp215Arg) c.895T>C (p.Trp299Arg) c.787T>C (p.Trp263Arg) c.820-6461T>C (n.820-6461T>C) c.871T>C (p.Trp291Arg) c.556T>C (p.Trp186Arg) | dbSNP |
| 6 | g.73621908A>T | CA364713648 | SLC17A5 | c.874T>A (p.Trp292Arg) c.823T>A (p.Trp275Arg) c.676T>A (p.Trp226Arg) c.643T>A (p.Trp215Arg) c.895T>A (p.Trp299Arg) c.787T>A (p.Trp263Arg) c.820-6461T>A (n.820-6461T>A) c.871T>A (p.Trp291Arg) c.556T>A (p.Trp186Arg) | |
| 6 | g.73621909A= | CA1638234803 | SLC17A5 | c.873T= (p.Leu291=) c.822T= (p.Leu274=) c.675T= (p.Leu225=) c.642T= (p.Leu214=) c.894T= (p.Leu298=) c.786T= (p.Leu262=) c.820-6462T= (n.820-6462T=) c.870T= (p.Leu290=) c.555T= (p.Leu185=) | |
| 6 | g.73621909A>C | CA450910910 | SLC17A5 | c.873T>G (p.Leu291=) c.822T>G (p.Leu274=) c.675T>G (p.Leu225=) c.642T>G (p.Leu214=) c.894T>G (p.Leu298=) c.786T>G (p.Leu262=) c.820-6462T>G (n.820-6462T>G) c.870T>G (p.Leu290=) c.555T>G (p.Leu185=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621909A>G | CA3890403 | SLC17A5 | c.873T>C (p.Leu291=) c.822T>C (p.Leu274=) c.675T>C (p.Leu225=) c.642T>C (p.Leu214=) c.894T>C (p.Leu298=) c.786T>C (p.Leu262=) c.820-6462T>C (n.820-6462T>C) c.870T>C (p.Leu290=) c.555T>C (p.Leu185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621909A>T | CA450910911 | SLC17A5 | c.873T>A (p.Leu291=) c.822T>A (p.Leu274=) c.675T>A (p.Leu225=) c.642T>A (p.Leu214=) c.894T>A (p.Leu298=) c.786T>A (p.Leu262=) c.820-6462T>A (n.820-6462T>A) c.870T>A (p.Leu290=) c.555T>A (p.Leu185=) | |
| 6 | g.73621910A= | CA1638234804 | SLC17A5 | c.872T= (p.Leu291=) c.821T= (p.Leu274=) c.674T= (p.Leu225=) c.641T= (p.Leu214=) c.893T= (p.Leu298=) c.785T= (p.Leu262=) c.820-6463T= (n.820-6463T=) c.869T= (p.Leu290=) c.554T= (p.Leu185=) | |
| 6 | g.73621910A>C | CA364713651 | SLC17A5 | c.872T>G (p.Leu291Arg) c.821T>G (p.Leu274Arg) c.674T>G (p.Leu225Arg) c.641T>G (p.Leu214Arg) c.893T>G (p.Leu298Arg) c.785T>G (p.Leu262Arg) c.820-6463T>G (n.820-6463T>G) c.869T>G (p.Leu290Arg) c.554T>G (p.Leu185Arg) | |
| 6 | g.73621910A>G | CA364713650 | SLC17A5 | c.872T>C (p.Leu291Pro) c.821T>C (p.Leu274Pro) c.674T>C (p.Leu225Pro) c.641T>C (p.Leu214Pro) c.893T>C (p.Leu298Pro) c.785T>C (p.Leu262Pro) c.820-6463T>C (n.820-6463T>C) c.869T>C (p.Leu290Pro) c.554T>C (p.Leu185Pro) | |
| 6 | g.73621910A>T | CA364713649 | SLC17A5 | c.872T>A (p.Leu291His) c.821T>A (p.Leu274His) c.674T>A (p.Leu225His) c.641T>A (p.Leu214His) c.893T>A (p.Leu298His) c.785T>A (p.Leu262His) c.820-6463T>A (n.820-6463T>A) c.869T>A (p.Leu290His) c.554T>A (p.Leu185His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621911G>A | CA364713652 | SLC17A5 | c.871C>T (p.Leu291Phe) c.820C>T (p.Leu274Phe) c.673C>T (p.Leu225Phe) c.640C>T (p.Leu214Phe) c.892C>T (p.Leu298Phe) c.784C>T (p.Leu262Phe) c.820-6464C>T (n.820-6464C>T) c.868C>T (p.Leu290Phe) c.553C>T (p.Leu185Phe) | dbSNP |