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.73621887A= | CA1638234793 | SLC17A5 | c.895T= (p.Phe299=) c.844T= (p.Phe282=) c.697T= (p.Phe233=) c.664T= (p.Phe222=) c.916T= (p.Phe306=) c.808T= (p.Phe270=) c.820-6440T= (n.820-6440T=) c.892T= (p.Phe298=) c.577T= (p.Phe193=) | |
| 6 | g.73621887A>C | CA364713547 | SLC17A5 | c.895T>G (p.Phe299Val) c.844T>G (p.Phe282Val) c.697T>G (p.Phe233Val) c.664T>G (p.Phe222Val) c.916T>G (p.Phe306Val) c.808T>G (p.Phe270Val) c.820-6440T>G (n.820-6440T>G) c.892T>G (p.Phe298Val) c.577T>G (p.Phe193Val) | |
| 6 | g.73621887A>G | CA3890398 | SLC17A5 | c.895T>C (p.Phe299Leu) c.844T>C (p.Phe282Leu) c.697T>C (p.Phe233Leu) c.664T>C (p.Phe222Leu) c.916T>C (p.Phe306Leu) c.808T>C (p.Phe270Leu) c.820-6440T>C (n.820-6440T>C) c.892T>C (p.Phe298Leu) c.577T>C (p.Phe193Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621887A>T | CA3890397 | SLC17A5 | c.895T>A (p.Phe299Ile) c.844T>A (p.Phe282Ile) c.697T>A (p.Phe233Ile) c.664T>A (p.Phe222Ile) c.916T>A (p.Phe306Ile) c.808T>A (p.Phe270Ile) c.820-6440T>A (n.820-6440T>A) c.892T>A (p.Phe298Ile) c.577T>A (p.Phe193Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621888G>A | CA450910896 | SLC17A5 | c.894C>T (p.His298=) c.843C>T (p.His281=) c.696C>T (p.His232=) c.663C>T (p.His221=) c.915C>T (p.His305=) c.807C>T (p.His269=) c.820-6441C>T (n.820-6441C>T) c.891C>T (p.His297=) c.576C>T (p.His192=) | |
| 6 | g.73621888G>C | CA364713551 | SLC17A5 | c.894C>G (p.His298Gln) c.843C>G (p.His281Gln) c.696C>G (p.His232Gln) c.663C>G (p.His221Gln) c.915C>G (p.His305Gln) c.807C>G (p.His269Gln) c.820-6441C>G (n.820-6441C>G) c.891C>G (p.His297Gln) c.576C>G (p.His192Gln) | gnomAD v4 |
| 6 | g.73621888G= | CA1638234794 | SLC17A5 | c.894C= (p.His298=) c.843C= (p.His281=) c.696C= (p.His232=) c.663C= (p.His221=) c.915C= (p.His305=) c.807C= (p.His269=) c.820-6441C= (n.820-6441C=) c.891C= (p.His297=) c.576C= (p.His192=) | |
| 6 | g.73621888G>T | CA364713553 | SLC17A5 | c.894C>A (p.His298Gln) c.843C>A (p.His281Gln) c.696C>A (p.His232Gln) c.663C>A (p.His221Gln) c.915C>A (p.His305Gln) c.807C>A (p.His269Gln) c.820-6441C>A (n.820-6441C>A) c.891C>A (p.His297Gln) c.576C>A (p.His192Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621889T>A | CA364713555 | SLC17A5 | c.893A>T (p.His298Leu) c.842A>T (p.His281Leu) c.695A>T (p.His232Leu) c.662A>T (p.His221Leu) c.914A>T (p.His305Leu) c.806A>T (p.His269Leu) c.820-6442A>T (n.820-6442A>T) c.890A>T (p.His297Leu) c.575A>T (p.His192Leu) | |
| 6 | g.73621889T>C | CA140963153 | SLC17A5 | c.893A>G (p.His298Arg) c.842A>G (p.His281Arg) c.695A>G (p.His232Arg) c.662A>G (p.His221Arg) c.914A>G (p.His305Arg) c.806A>G (p.His269Arg) c.820-6442A>G (n.820-6442A>G) c.890A>G (p.His297Arg) c.575A>G (p.His192Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621889T>G | CA364713559 | SLC17A5 | c.893A>C (p.His298Pro) c.842A>C (p.His281Pro) c.695A>C (p.His232Pro) c.662A>C (p.His221Pro) c.914A>C (p.His305Pro) c.806A>C (p.His269Pro) c.820-6442A>C (n.820-6442A>C) c.890A>C (p.His297Pro) c.575A>C (p.His192Pro) | |
| 6 | g.73621889T= | CA1638234795 | SLC17A5 | c.893A= (p.His298=) c.842A= (p.His281=) c.695A= (p.His232=) c.662A= (p.His221=) c.914A= (p.His305=) c.806A= (p.His269=) c.820-6442A= (n.820-6442A=) c.890A= (p.His297=) c.575A= (p.His192=) | |
| 6 | g.73621890G>A | CA364713561 | SLC17A5 | c.892C>T (p.His298Tyr) c.841C>T (p.His281Tyr) c.694C>T (p.His232Tyr) c.661C>T (p.His221Tyr) c.913C>T (p.His305Tyr) c.805C>T (p.His269Tyr) c.820-6443C>T (n.820-6443C>T) c.889C>T (p.His297Tyr) c.574C>T (p.His192Tyr) | gnomAD v4 |
| 6 | g.73621890G>C | CA364713563 | SLC17A5 | c.892C>G (p.His298Asp) c.841C>G (p.His281Asp) c.694C>G (p.His232Asp) c.661C>G (p.His221Asp) c.913C>G (p.His305Asp) c.805C>G (p.His269Asp) c.820-6443C>G (n.820-6443C>G) c.889C>G (p.His297Asp) c.574C>G (p.His192Asp) | |
| 6 | g.73621890G>T | CA364713565 | SLC17A5 | c.892C>A (p.His298Asn) c.841C>A (p.His281Asn) c.694C>A (p.His232Asn) c.661C>A (p.His221Asn) c.913C>A (p.His305Asn) c.805C>A (p.His269Asn) c.820-6443C>A (n.820-6443C>A) c.889C>A (p.His297Asn) c.574C>A (p.His192Asn) | |
| 6 | g.73621891T>A | CA450910897 | SLC17A5 | c.891A>T (p.Ala297=) c.840A>T (p.Ala280=) c.693A>T (p.Ala231=) c.660A>T (p.Ala220=) c.912A>T (p.Ala304=) c.804A>T (p.Ala268=) c.820-6444A>T (n.820-6444A>T) c.888A>T (p.Ala296=) c.573A>T (p.Ala191=) | |
| 6 | g.73621891T>C | CA450910898 | SLC17A5 | c.891A>G (p.Ala297=) c.840A>G (p.Ala280=) c.693A>G (p.Ala231=) c.660A>G (p.Ala220=) c.912A>G (p.Ala304=) c.804A>G (p.Ala268=) c.820-6444A>G (n.820-6444A>G) c.888A>G (p.Ala296=) c.573A>G (p.Ala191=) | |
| 6 | g.73621891T>G | CA450910899 | SLC17A5 | c.891A>C (p.Ala297=) c.840A>C (p.Ala280=) c.693A>C (p.Ala231=) c.660A>C (p.Ala220=) c.912A>C (p.Ala304=) c.804A>C (p.Ala268=) c.820-6444A>C (n.820-6444A>C) c.888A>C (p.Ala296=) c.573A>C (p.Ala191=) | |
| 6 | g.73621892G>A | CA3890399 | SLC17A5 | c.890C>T (p.Ala297Val) c.839C>T (p.Ala280Val) c.692C>T (p.Ala231Val) c.659C>T (p.Ala220Val) c.911C>T (p.Ala304Val) c.803C>T (p.Ala268Val) c.820-6445C>T (n.820-6445C>T) c.887C>T (p.Ala296Val) c.572C>T (p.Ala191Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621892G>C | CA364713568 | SLC17A5 | c.890C>G (p.Ala297Gly) c.839C>G (p.Ala280Gly) c.692C>G (p.Ala231Gly) c.659C>G (p.Ala220Gly) c.911C>G (p.Ala304Gly) c.803C>G (p.Ala268Gly) c.820-6445C>G (n.820-6445C>G) c.887C>G (p.Ala296Gly) c.572C>G (p.Ala191Gly) | |
| 6 | g.73621892G= | CA1638234796 | SLC17A5 | c.890C= (p.Ala297=) c.839C= (p.Ala280=) c.692C= (p.Ala231=) c.659C= (p.Ala220=) c.911C= (p.Ala304=) c.803C= (p.Ala268=) c.820-6445C= (n.820-6445C=) c.887C= (p.Ala296=) c.572C= (p.Ala191=) | |
| 6 | g.73621892G>T | CA364713571 | SLC17A5 | c.890C>A (p.Ala297Glu) c.839C>A (p.Ala280Glu) c.692C>A (p.Ala231Glu) c.659C>A (p.Ala220Glu) c.911C>A (p.Ala304Glu) c.803C>A (p.Ala268Glu) c.820-6445C>A (n.820-6445C>A) c.887C>A (p.Ala296Glu) c.572C>A (p.Ala191Glu) | |
| 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=) |