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.73621893C>A | CA364713575 | SLC17A5 | c.889G>T (p.Ala297Ser) c.838G>T (p.Ala280Ser) c.691G>T (p.Ala231Ser) c.658G>T (p.Ala220Ser) c.910G>T (p.Ala304Ser) c.802G>T (p.Ala268Ser) c.820-6446G>T (n.820-6446G>T) c.886G>T (p.Ala296Ser) c.571G>T (p.Ala191Ser) | gnomAD v4 |
| 6 | g.73621893C>G | CA364713576 | SLC17A5 | c.889G>C (p.Ala297Pro) c.838G>C (p.Ala280Pro) c.691G>C (p.Ala231Pro) c.658G>C (p.Ala220Pro) c.910G>C (p.Ala304Pro) c.802G>C (p.Ala268Pro) c.820-6446G>C (n.820-6446G>C) c.886G>C (p.Ala296Pro) c.571G>C (p.Ala191Pro) | |
| 6 | g.73621893C>T | CA364713573 | SLC17A5 | c.889G>A (p.Ala297Thr) c.838G>A (p.Ala280Thr) c.691G>A (p.Ala231Thr) c.658G>A (p.Ala220Thr) c.910G>A (p.Ala304Thr) c.802G>A (p.Ala268Thr) c.820-6446G>A (n.820-6446G>A) c.886G>A (p.Ala296Thr) c.571G>A (p.Ala191Thr) | |
| 6 | g.73621894A>C | CA450910901 | SLC17A5 | c.888T>G (p.Val296=) c.837T>G (p.Val279=) c.690T>G (p.Val230=) c.657T>G (p.Val219=) c.909T>G (p.Val303=) c.801T>G (p.Val267=) c.820-6447T>G (n.820-6447T>G) c.885T>G (p.Val295=) c.570T>G (p.Val190=) | |
| 6 | g.73621894A>G | CA450910902 | SLC17A5 | c.888T>C (p.Val296=) c.837T>C (p.Val279=) c.690T>C (p.Val230=) c.657T>C (p.Val219=) c.909T>C (p.Val303=) c.801T>C (p.Val267=) c.820-6447T>C (n.820-6447T>C) c.885T>C (p.Val295=) c.570T>C (p.Val190=) | |
| 6 | g.73621894A>T | CA450910900 | SLC17A5 | c.888T>A (p.Val296=) c.837T>A (p.Val279=) c.690T>A (p.Val230=) c.657T>A (p.Val219=) c.909T>A (p.Val303=) c.801T>A (p.Val267=) c.820-6447T>A (n.820-6447T>A) c.885T>A (p.Val295=) c.570T>A (p.Val190=) | |
| 6 | g.73621895A>C | CA364713579 | SLC17A5 | c.887T>G (p.Val296Gly) c.836T>G (p.Val279Gly) c.689T>G (p.Val230Gly) c.656T>G (p.Val219Gly) c.908T>G (p.Val303Gly) c.800T>G (p.Val267Gly) c.820-6448T>G (n.820-6448T>G) c.884T>G (p.Val295Gly) c.569T>G (p.Val190Gly) | |
| 6 | g.73621895A>G | CA364713583 | SLC17A5 | c.887T>C (p.Val296Ala) c.836T>C (p.Val279Ala) c.689T>C (p.Val230Ala) c.656T>C (p.Val219Ala) c.908T>C (p.Val303Ala) c.800T>C (p.Val267Ala) c.820-6448T>C (n.820-6448T>C) c.884T>C (p.Val295Ala) c.569T>C (p.Val190Ala) | COSMIC |
| 6 | g.73621895A>T | CA364713581 | SLC17A5 | c.887T>A (p.Val296Asp) c.836T>A (p.Val279Asp) c.689T>A (p.Val230Asp) c.656T>A (p.Val219Asp) c.908T>A (p.Val303Asp) c.800T>A (p.Val267Asp) c.820-6448T>A (n.820-6448T>A) c.884T>A (p.Val295Asp) c.569T>A (p.Val190Asp) | |
| 6 | g.73621896C>A | CA364713585 | SLC17A5 | c.886G>T (p.Val296Phe) c.835G>T (p.Val279Phe) c.688G>T (p.Val230Phe) c.655G>T (p.Val219Phe) c.907G>T (p.Val303Phe) c.799G>T (p.Val267Phe) c.820-6449G>T (n.820-6449G>T) c.883G>T (p.Val295Phe) c.568G>T (p.Val190Phe) | |
| 6 | g.73621896C= | CA1638234797 | SLC17A5 | c.886G= (p.Val296=) c.835G= (p.Val279=) c.688G= (p.Val230=) c.655G= (p.Val219=) c.907G= (p.Val303=) c.799G= (p.Val267=) c.820-6449G= (n.820-6449G=) c.883G= (p.Val295=) c.568G= (p.Val190=) | |
| 6 | g.73621896C>G | CA364713588 | SLC17A5 | c.886G>C (p.Val296Leu) c.835G>C (p.Val279Leu) c.688G>C (p.Val230Leu) c.655G>C (p.Val219Leu) c.907G>C (p.Val303Leu) c.799G>C (p.Val267Leu) c.820-6449G>C (n.820-6449G>C) c.883G>C (p.Val295Leu) c.568G>C (p.Val190Leu) | |
| 6 | g.73621896C>T | CA203496 | SLC17A5 | c.886G>A (p.Val296Ile) c.835G>A (p.Val279Ile) c.688G>A (p.Val230Ile) c.655G>A (p.Val219Ile) c.907G>A (p.Val303Ile) c.799G>A (p.Val267Ile) c.820-6449G>A (n.820-6449G>A) c.883G>A (p.Val295Ile) c.568G>A (p.Val190Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |