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 |
|---|---|---|---|---|---|
| 19 | g.41970391G>A | CA507694778 | ATP1A3 | c.2454C>T (p.Asp818=) c.2415C>T (p.Asp805=) c.2448C>T (p.Asp816=) c.2325C>T (p.Asp775=) | dbSNP gnomAD v4 |
| 19 | g.41970391G>C | CA346025 | ATP1A3 | c.2454C>G (p.Asp818Glu) c.2415C>G (p.Asp805Glu) c.2448C>G (p.Asp816Glu) c.2325C>G (p.Asp775Glu) | ClinVar dbSNP |
| 19 | g.41970391G= | CA2336720892 | ATP1A3 | c.2454C= (p.Asp818=) c.2415C= (p.Asp805=) c.2448C= (p.Asp816=) c.2325C= (p.Asp775=) | |
| 19 | g.41970391G>T | CA406039211 | ATP1A3 | c.2454C>A (p.Asp818Glu) c.2415C>A (p.Asp805Glu) c.2448C>A (p.Asp816Glu) c.2325C>A (p.Asp775Glu) | ClinVar dbSNP |
| 19 | g.41970392T>A | CA406039215 | ATP1A3 | c.2453A>T (p.Asp818Val) c.2414A>T (p.Asp805Val) c.2447A>T (p.Asp816Val) c.2324A>T (p.Asp775Val) | |
| 19 | g.41970392T>C | CA406039217 | ATP1A3 | c.2453A>G (p.Asp818Gly) c.2414A>G (p.Asp805Gly) c.2447A>G (p.Asp816Gly) c.2324A>G (p.Asp775Gly) | |
| 19 | g.41970392T>G | CA406039218 | ATP1A3 | c.2453A>C (p.Asp818Ala) c.2414A>C (p.Asp805Ala) c.2447A>C (p.Asp816Ala) c.2324A>C (p.Asp775Ala) | |
| 19 | g.41970393C>A | CA406039221 | ATP1A3 | c.2452G>T (p.Asp818Tyr) c.2413G>T (p.Asp805Tyr) c.2446G>T (p.Asp816Tyr) c.2323G>T (p.Asp775Tyr) | |
| 19 | g.41970393C>G | CA406039226 | ATP1A3 | c.2452G>C (p.Asp818His) c.2413G>C (p.Asp805His) c.2446G>C (p.Asp816His) c.2323G>C (p.Asp775His) | |
| 19 | g.41970393C>T | CA406039224 | ATP1A3 | c.2452G>A (p.Asp818Asn) c.2413G>A (p.Asp805Asn) c.2446G>A (p.Asp816Asn) c.2323G>A (p.Asp775Asn) | |
| 19 | g.41970394A>C | CA507694779 | ATP1A3 | c.2451T>G (p.Thr817=) c.2412T>G (p.Thr804=) c.2445T>G (p.Thr815=) c.2322T>G (p.Thr774=) | |
| 19 | g.41970394A>G | CA507694781 | ATP1A3 | c.2451T>C (p.Thr817=) c.2412T>C (p.Thr804=) c.2445T>C (p.Thr815=) c.2322T>C (p.Thr774=) | |
| 19 | g.41970394A>T | CA507694780 | ATP1A3 | c.2451T>A (p.Thr817=) c.2412T>A (p.Thr804=) c.2445T>A (p.Thr815=) c.2322T>A (p.Thr774=) | |
| 19 | g.41970395G>A | CA346023 | ATP1A3 | c.2450C>T (p.Thr817Ile) c.2411C>T (p.Thr804Ile) c.2444C>T (p.Thr815Ile) c.2321C>T (p.Thr774Ile) | dbSNP |
| 19 | g.41970395G>C | CA406039232 | ATP1A3 | c.2450C>G (p.Thr817Ser) c.2411C>G (p.Thr804Ser) c.2444C>G (p.Thr815Ser) c.2321C>G (p.Thr774Ser) | |
| 19 | g.41970395G= | CA2336720896 | ATP1A3 | c.2450C= (p.Thr817=) c.2411C= (p.Thr804=) c.2444C= (p.Thr815=) c.2321C= (p.Thr774=) | |
| 19 | g.41970395G>T | CA406039235 | ATP1A3 | c.2450C>A (p.Thr817Asn) c.2411C>A (p.Thr804Asn) c.2444C>A (p.Thr815Asn) c.2321C>A (p.Thr774Asn) | |
| 19 | g.41970396T>A | CA406039240 | ATP1A3 | c.2449A>T (p.Thr817Ser) c.2410A>T (p.Thr804Ser) c.2443A>T (p.Thr815Ser) c.2320A>T (p.Thr774Ser) | |
| 19 | g.41970396T>C | CA406039241 | ATP1A3 | c.2449A>G (p.Thr817Ala) c.2410A>G (p.Thr804Ala) c.2443A>G (p.Thr815Ala) c.2320A>G (p.Thr774Ala) | |
| 19 | g.41970396T>G | CA406039244 | ATP1A3 | c.2449A>C (p.Thr817Pro) c.2410A>C (p.Thr804Pro) c.2443A>C (p.Thr815Pro) c.2320A>C (p.Thr774Pro) | |
| 19 | g.41970397G>A | CA9467409 | ATP1A3 | c.2448C>T (p.Gly816=) c.2409C>T (p.Gly803=) c.2442C>T (p.Gly814=) c.2319C>T (p.Gly773=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41970397G>C | CA507694782 | ATP1A3 | c.2448C>G (p.Gly816=) c.2409C>G (p.Gly803=) c.2442C>G (p.Gly814=) c.2319C>G (p.Gly773=) | |
| 19 | g.41970397G= | CA2336720899 | ATP1A3 | c.2448C= (p.Gly816=) c.2409C= (p.Gly803=) c.2442C= (p.Gly814=) c.2319C= (p.Gly773=) | |
| 19 | g.41970397G>T | CA507694783 | ATP1A3 | c.2448C>A (p.Gly816=) c.2409C>A (p.Gly803=) c.2442C>A (p.Gly814=) c.2319C>A (p.Gly773=) | |
| 19 | g.41970398C>A | CA406039249 | ATP1A3 | c.2447G>T (p.Gly816Val) c.2408G>T (p.Gly803Val) c.2441G>T (p.Gly814Val) c.2318G>T (p.Gly773Val) | |
| 19 | g.41970398C= | CA2336720902 | ATP1A3 | c.2447G= (p.Gly816=) c.2408G= (p.Gly803=) c.2441G= (p.Gly814=) c.2318G= (p.Gly773=) | |
| 19 | g.41970398C>G | CA406039250 | ATP1A3 | c.2447G>C (p.Gly816Ala) c.2408G>C (p.Gly803Ala) c.2441G>C (p.Gly814Ala) c.2318G>C (p.Gly773Ala) | |
| 19 | g.41970398C>T | CA406039252 | ATP1A3 | c.2447G>A (p.Gly816Asp) c.2408G>A (p.Gly803Asp) c.2441G>A (p.Gly814Asp) c.2318G>A (p.Gly773Asp) | ClinVar dbSNP COSMIC |
| 19 | g.41970399C>A | CA406039256 | ATP1A3 | c.2446G>T (p.Gly816Cys) c.2407G>T (p.Gly803Cys) c.2440G>T (p.Gly814Cys) c.2317G>T (p.Gly773Cys) | |
| 19 | g.41970399C= | CA2336720909 | ATP1A3 | c.2446G= (p.Gly816=) c.2407G= (p.Gly803=) c.2440G= (p.Gly814=) c.2317G= (p.Gly773=) | |
| 19 | g.41970399C>G | CA406039255 | ATP1A3 | c.2446G>C (p.Gly816Arg) c.2407G>C (p.Gly803Arg) c.2440G>C (p.Gly814Arg) c.2317G>C (p.Gly773Arg) | ClinVar dbSNP |
| 19 | g.41970399C>T | CA406039254 | ATP1A3 | c.2446G>A (p.Gly816Ser) c.2407G>A (p.Gly803Ser) c.2440G>A (p.Gly814Ser) c.2317G>A (p.Gly773Ser) | ClinVar dbSNP COSMIC |
| 19 | g.41970400C>A | CA507694784 | ATP1A3 | c.2445G>T (p.Leu815=) c.2406G>T (p.Leu802=) c.2439G>T (p.Leu813=) c.2316G>T (p.Leu772=) | |
| 19 | g.41970400C= | CA2336720912 | ATP1A3 | c.2445G= (p.Leu815=) c.2406G= (p.Leu802=) c.2439G= (p.Leu813=) c.2316G= (p.Leu772=) | |
| 19 | g.41970400C>G | CA507694786 | ATP1A3 | c.2445G>C (p.Leu815=) c.2406G>C (p.Leu802=) c.2439G>C (p.Leu813=) c.2316G>C (p.Leu772=) | |
| 19 | g.41970400C>T | CA507694787 | ATP1A3 | c.2445G>A (p.Leu815=) c.2406G>A (p.Leu802=) c.2439G>A (p.Leu813=) c.2316G>A (p.Leu772=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41970401A>C | CA406039257 | ATP1A3 | c.2444T>G (p.Leu815Arg) c.2405T>G (p.Leu802Arg) c.2438T>G (p.Leu813Arg) c.2315T>G (p.Leu772Arg) | |
| 19 | g.41970401A>G | CA406039261 | ATP1A3 | c.2444T>C (p.Leu815Pro) c.2405T>C (p.Leu802Pro) c.2438T>C (p.Leu813Pro) c.2315T>C (p.Leu772Pro) | |
| 19 | g.41970401A>T | CA406039258 | ATP1A3 | c.2444T>A (p.Leu815Gln) c.2405T>A (p.Leu802Gln) c.2438T>A (p.Leu813Gln) c.2315T>A (p.Leu772Gln) | |
| 19 | g.41970402G>A | CA507694788 | ATP1A3 | c.2443C>T (p.Leu815=) c.2404C>T (p.Leu802=) c.2437C>T (p.Leu813=) c.2314C>T (p.Leu772=) | |
| 19 | g.41970402G>C | CA406039272 | ATP1A3 | c.2443C>G (p.Leu815Val) c.2404C>G (p.Leu802Val) c.2437C>G (p.Leu813Val) c.2314C>G (p.Leu772Val) | |
| 19 | g.41970402G>T | CA406039274 | ATP1A3 | c.2443C>A (p.Leu815Met) c.2404C>A (p.Leu802Met) c.2437C>A (p.Leu813Met) c.2314C>A (p.Leu772Met) | |
| 19 | g.41970403A= | CA2336720913 | ATP1A3 | c.2442T= (p.Asp814=) c.2403T= (p.Asp801=) c.2436T= (p.Asp812=) c.2313T= (p.Asp771=) | |
| 19 | g.41970403A>C | CA406039276 | ATP1A3 | c.2442T>G (p.Asp814Glu) c.2403T>G (p.Asp801Glu) c.2436T>G (p.Asp812Glu) c.2313T>G (p.Asp771Glu) | |
| 19 | g.41970403A>G | CA507694789 | ATP1A3 | c.2442T>C (p.Asp814=) c.2403T>C (p.Asp801=) c.2436T>C (p.Asp812=) c.2313T>C (p.Asp771=) | dbSNP |
| 19 | g.41970403A>T | CA406039278 | ATP1A3 | c.2442T>A (p.Asp814Glu) c.2403T>A (p.Asp801Glu) c.2436T>A (p.Asp812Glu) c.2313T>A (p.Asp771Glu) | ClinVar dbSNP |
| 19 | g.41970404T>A | CA406039282 | ATP1A3 | c.2441A>T (p.Asp814Val) c.2402A>T (p.Asp801Val) c.2435A>T (p.Asp812Val) c.2312A>T (p.Asp771Val) | |
| 19 | g.41970404T>C | CA406039285 | ATP1A3 | c.2441A>G (p.Asp814Gly) c.2402A>G (p.Asp801Gly) c.2435A>G (p.Asp812Gly) c.2312A>G (p.Asp771Gly) | |
| 19 | g.41970404T>G | CA406039286 | ATP1A3 | c.2441A>C (p.Asp814Ala) c.2402A>C (p.Asp801Ala) c.2435A>C (p.Asp812Ala) c.2312A>C (p.Asp771Ala) | |
| 19 | g.41970405C>A | CA341238 | ATP1A3 | c.2440G>T (p.Asp814Tyr) c.2401G>T (p.Asp801Tyr) c.2434G>T (p.Asp812Tyr) c.2311G>T (p.Asp771Tyr) | ClinVar dbSNP |