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.41987936G>A | CA9467899 | ATP1A3 | c.396C>T (p.Asn132=) c.357C>T (p.Asn119=) c.267C>T (p.Asn89=) c.390C>T (p.Asn130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41987936G>C | CA406055942 | ATP1A3 | c.396C>G (p.Asn132Lys) c.357C>G (p.Asn119Lys) c.267C>G (p.Asn89Lys) c.390C>G (p.Asn130Lys) | |
| 19 | g.41987936G= | CA2336729259 | ATP1A3 | c.396C= (p.Asn132=) c.357C= (p.Asn119=) c.267C= (p.Asn89=) c.390C= (p.Asn130=) | |
| 19 | g.41987936G>T | CA406055940 | ATP1A3 | c.396C>A (p.Asn132Lys) c.357C>A (p.Asn119Lys) c.267C>A (p.Asn89Lys) c.390C>A (p.Asn130Lys) | |
| 19 | g.41987937T>A | CA406055947 | ATP1A3 | c.395A>T (p.Asn132Ile) c.356A>T (p.Asn119Ile) c.266A>T (p.Asn89Ile) c.389A>T (p.Asn130Ile) | |
| 19 | g.41987937T>C | CA406055949 | ATP1A3 | c.395A>G (p.Asn132Ser) c.356A>G (p.Asn119Ser) c.266A>G (p.Asn89Ser) c.389A>G (p.Asn130Ser) | |
| 19 | g.41987937T>G | CA406055951 | ATP1A3 | c.395A>C (p.Asn132Thr) c.356A>C (p.Asn119Thr) c.266A>C (p.Asn89Thr) c.389A>C (p.Asn130Thr) | |
| 19 | g.41987938T>A | CA406055953 | ATP1A3 | c.394A>T (p.Asn132Tyr) c.355A>T (p.Asn119Tyr) c.265A>T (p.Asn89Tyr) c.388A>T (p.Asn130Tyr) | |
| 19 | g.41987938T>C | CA406055955 | ATP1A3 | c.394A>G (p.Asn132Asp) c.355A>G (p.Asn119Asp) c.265A>G (p.Asn89Asp) c.388A>G (p.Asn130Asp) | |
| 19 | g.41987938T>G | CA406055958 | ATP1A3 | c.394A>C (p.Asn132His) c.355A>C (p.Asn119His) c.265A>C (p.Asn89His) c.388A>C (p.Asn130His) | |
| 19 | g.41987939G>A | CA9467900 | ATP1A3 | c.393C>T (p.Asp131=) c.354C>T (p.Asp118=) c.264C>T (p.Asp88=) c.387C>T (p.Asp129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41987939G>C | CA406055962 | ATP1A3 | c.393C>G (p.Asp131Glu) c.354C>G (p.Asp118Glu) c.264C>G (p.Asp88Glu) c.387C>G (p.Asp129Glu) | |
| 19 | g.41987939G= | CA2336729260 | ATP1A3 | c.393C= (p.Asp131=) c.354C= (p.Asp118=) c.264C= (p.Asp88=) c.387C= (p.Asp129=) | |
| 19 | g.41987939G>T | CA406055964 | ATP1A3 | c.393C>A (p.Asp131Glu) c.354C>A (p.Asp118Glu) c.264C>A (p.Asp88Glu) c.387C>A (p.Asp129Glu) | |
| 19 | g.41987940T>A | CA406055967 | ATP1A3 | c.392A>T (p.Asp131Val) c.353A>T (p.Asp118Val) c.263A>T (p.Asp88Val) c.386A>T (p.Asp129Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41987940T>C | CA406055972 | ATP1A3 | c.392A>G (p.Asp131Gly) c.353A>G (p.Asp118Gly) c.263A>G (p.Asp88Gly) c.386A>G (p.Asp129Gly) | |
| 19 | g.41987940T>G | CA406055974 | ATP1A3 | c.392A>C (p.Asp131Ala) c.353A>C (p.Asp118Ala) c.263A>C (p.Asp88Ala) c.386A>C (p.Asp129Ala) | |
| 19 | g.41987940T= | CA2336729261 | ATP1A3 | c.392A= (p.Asp131=) c.353A= (p.Asp118=) c.263A= (p.Asp88=) c.386A= (p.Asp129=) | |
| 19 | g.41987940_41987942delinsTCA | CA2336729262 | ATP1A3 | c.390_392delinsTGA (p.Gly130=) c.351_353delinsTGA (p.Gly117=) c.261_263delinsTGA (p.Gly87=) c.384_386delinsTGA (p.Gly128=) | |
| 19 | g.41987941C>A | CA406055983 | ATP1A3 | c.391G>T (p.Asp131Tyr) c.352G>T (p.Asp118Tyr) c.262G>T (p.Asp88Tyr) c.385G>T (p.Asp129Tyr) | |
| 19 | g.41987941C>G | CA406055979 | ATP1A3 | c.391G>C (p.Asp131His) c.352G>C (p.Asp118His) c.262G>C (p.Asp88His) c.385G>C (p.Asp129His) | |
| 19 | g.41987941C>T | CA406055976 | ATP1A3 | c.391G>A (p.Asp131Asn) c.352G>A (p.Asp118Asn) c.262G>A (p.Asp88Asn) c.385G>A (p.Asp129Asn) | |
| 19 | g.41987942_41987943del | CA2336729263 | ATP1A3 | c.390_391del (p.Asp131GlnfsTer?) c.351_352del (p.Asp118GlnfsTer?) c.261_262del (p.Asp88GlnfsTer?) c.384_385del (p.Asp129GlnfsTer?) | dbSNP |
| 19 | g.41987942A>C | CA507695477 | ATP1A3 | c.390T>G (p.Gly130=) c.351T>G (p.Gly117=) c.261T>G (p.Gly87=) c.384T>G (p.Gly128=) | |
| 19 | g.41987942A>G | CA507695478 | ATP1A3 | c.390T>C (p.Gly130=) c.351T>C (p.Gly117=) c.261T>C (p.Gly87=) c.384T>C (p.Gly128=) | |
| 19 | g.41987942A>T | CA507695479 | ATP1A3 | c.390T>A (p.Gly130=) c.351T>A (p.Gly117=) c.261T>A (p.Gly87=) c.384T>A (p.Gly128=) | |
| 19 | g.41987943C>A | CA406055984 | ATP1A3 | c.389G>T (p.Gly130Val) c.350G>T (p.Gly117Val) c.260G>T (p.Gly87Val) c.383G>T (p.Gly128Val) | |
| 19 | g.41987943C>G | CA406055985 | ATP1A3 | c.389G>C (p.Gly130Ala) c.350G>C (p.Gly117Ala) c.260G>C (p.Gly87Ala) c.383G>C (p.Gly128Ala) | |
| 19 | g.41987943C>T | CA406055988 | ATP1A3 | c.389G>A (p.Gly130Asp) c.350G>A (p.Gly117Asp) c.260G>A (p.Gly87Asp) c.383G>A (p.Gly128Asp) | |
| 19 | g.41987944C>A | CA406055990 | ATP1A3 | c.388G>T (p.Gly130Cys) c.349G>T (p.Gly117Cys) c.259G>T (p.Gly87Cys) c.382G>T (p.Gly128Cys) | |
| 19 | g.41987944C>G | CA406055991 | ATP1A3 | c.388G>C (p.Gly130Arg) c.349G>C (p.Gly117Arg) c.259G>C (p.Gly87Arg) c.382G>C (p.Gly128Arg) | |
| 19 | g.41987944C>T | CA406055992 | ATP1A3 | c.388G>A (p.Gly130Ser) c.349G>A (p.Gly117Ser) c.259G>A (p.Gly87Ser) c.382G>A (p.Gly128Ser) | |
| 19 | g.41987945A>C | CA507695480 | ATP1A3 | c.387T>G (p.Ser129=) c.348T>G (p.Ser116=) c.258T>G (p.Ser86=) c.381T>G (p.Ser127=) | |
| 19 | g.41987945A>G | CA507695482 | ATP1A3 | c.387T>C (p.Ser129=) c.348T>C (p.Ser116=) c.258T>C (p.Ser86=) c.381T>C (p.Ser127=) | |
| 19 | g.41987945A>T | CA507695483 | ATP1A3 | c.387T>A (p.Ser129=) c.348T>A (p.Ser116=) c.258T>A (p.Ser86=) c.381T>A (p.Ser127=) | |
| 19 | g.41987946G>A | CA406055993 | ATP1A3 | c.386C>T (p.Ser129Phe) c.347C>T (p.Ser116Phe) c.257C>T (p.Ser86Phe) c.380C>T (p.Ser127Phe) | |
| 19 | g.41987946G>C | CA406055994 | ATP1A3 | c.386C>G (p.Ser129Cys) c.347C>G (p.Ser116Cys) c.257C>G (p.Ser86Cys) c.380C>G (p.Ser127Cys) | |
| 19 | g.41987946G>T | CA406055996 | ATP1A3 | c.386C>A (p.Ser129Tyr) c.347C>A (p.Ser116Tyr) c.257C>A (p.Ser86Tyr) c.380C>A (p.Ser127Tyr) | |
| 19 | g.41987947A>C | CA406055999 | ATP1A3 | c.385T>G (p.Ser129Ala) c.346T>G (p.Ser116Ala) c.256T>G (p.Ser86Ala) c.379T>G (p.Ser127Ala) | |
| 19 | g.41987947A>G | CA406056003 | ATP1A3 | c.385T>C (p.Ser129Pro) c.346T>C (p.Ser116Pro) c.256T>C (p.Ser86Pro) c.379T>C (p.Ser127Pro) | |
| 19 | g.41987947A>T | CA406056008 | ATP1A3 | c.385T>A (p.Ser129Thr) c.346T>A (p.Ser116Thr) c.256T>A (p.Ser86Thr) c.379T>A (p.Ser127Thr) | |
| 19 | g.41987948G>A | CA507695486 | ATP1A3 | c.384C>T (p.Pro128=) c.345C>T (p.Pro115=) c.255C>T (p.Pro85=) c.378C>T (p.Pro126=) | |
| 19 | g.41987948G>C | CA507695487 | ATP1A3 | c.384C>G (p.Pro128=) c.345C>G (p.Pro115=) c.255C>G (p.Pro85=) c.378C>G (p.Pro126=) | |
| 19 | g.41987948G>T | CA507695488 | ATP1A3 | c.384C>A (p.Pro128=) c.345C>A (p.Pro115=) c.255C>A (p.Pro85=) c.378C>A (p.Pro126=) | |
| 19 | g.41987949G>A | CA406056014 | ATP1A3 | c.383C>T (p.Pro128Leu) c.344C>T (p.Pro115Leu) c.254C>T (p.Pro85Leu) c.377C>T (p.Pro126Leu) | |
| 19 | g.41987949G>C | CA9467901 | ATP1A3 | c.383C>G (p.Pro128Arg) c.344C>G (p.Pro115Arg) c.254C>G (p.Pro85Arg) c.377C>G (p.Pro126Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.41987949G= | CA2336729264 | ATP1A3 | c.383C= (p.Pro128=) c.344C= (p.Pro115=) c.254C= (p.Pro85=) c.377C= (p.Pro126=) | |
| 19 | g.41987949G>T | CA406056013 | ATP1A3 | c.383C>A (p.Pro128His) c.344C>A (p.Pro115His) c.254C>A (p.Pro85His) c.377C>A (p.Pro126His) | |
| 19 | g.41987950G>A | CA406056015 | ATP1A3 | c.382C>T (p.Pro128Ser) c.343C>T (p.Pro115Ser) c.253C>T (p.Pro85Ser) c.376C>T (p.Pro126Ser) | COSMIC |
| 19 | g.41987950G>C | CA406056016 | ATP1A3 | c.382C>G (p.Pro128Ala) c.343C>G (p.Pro115Ala) c.253C>G (p.Pro85Ala) c.376C>G (p.Pro126Ala) |