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 |
|---|---|---|---|---|---|
| 17 | g.76469731G>A | CA215123 | AANAT | c.385G>A (p.Ala129Thr) c.520G>A (p.Ala174Thr) c.*162G>A (n.*162G>A) n.696G>A c.592G>A (p.Ala198Thr) c.475G>A (p.Ala159Thr) c.499G>A (p.Ala167Thr) n.641G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469731G>C | CA401161195 | AANAT | c.385G>C (p.Ala129Pro) c.520G>C (p.Ala174Pro) c.*162G>C (n.*162G>C) n.696G>C c.592G>C (p.Ala198Pro) c.475G>C (p.Ala159Pro) c.499G>C (p.Ala167Pro) n.641G>C | dbSNP |
| 17 | g.76469731G= | CA2276011954 | AANAT | c.385G= (p.Ala129=) c.520G= (p.Ala174=) c.*162G= (n.*162G=) n.696G= c.592G= (p.Ala198=) c.475G= (p.Ala159=) c.499G= (p.Ala167=) n.641G= | |
| 17 | g.76469731G>T | CA401161194 | AANAT | c.385G>T (p.Ala129Ser) c.520G>T (p.Ala174Ser) c.*162G>T (n.*162G>T) n.696G>T c.592G>T (p.Ala198Ser) c.475G>T (p.Ala159Ser) c.499G>T (p.Ala167Ser) n.641G>T | gnomAD v4 |
| 17 | g.76469732C>A | CA401161196 | AANAT | c.386C>A (p.Ala129Asp) c.521C>A (p.Ala174Asp) c.*163C>A (n.*163C>A) n.697C>A c.593C>A (p.Ala198Asp) c.476C>A (p.Ala159Asp) c.500C>A (p.Ala167Asp) n.642C>A | gnomAD v4 |
| 17 | g.76469732C>G | CA401161198 | AANAT | c.386C>G (p.Ala129Gly) c.521C>G (p.Ala174Gly) c.*163C>G (n.*163C>G) n.697C>G c.593C>G (p.Ala198Gly) c.476C>G (p.Ala159Gly) c.500C>G (p.Ala167Gly) n.642C>G | |
| 17 | g.76469732C>T | CA401161197 | AANAT | c.386C>T (p.Ala129Val) c.521C>T (p.Ala174Val) c.*163C>T (n.*163C>T) n.697C>T c.593C>T (p.Ala198Val) c.476C>T (p.Ala159Val) c.500C>T (p.Ala167Val) n.642C>T | |
| 17 | g.76469733C>A | CA502066632 | AANAT | c.387C>A (p.Ala129=) c.522C>A (p.Ala174=) c.*164C>A (n.*164C>A) n.698C>A c.594C>A (p.Ala198=) c.477C>A (p.Ala159=) c.501C>A (p.Ala167=) n.643C>A | gnomAD v4 |
| 17 | g.76469733C>G | CA502066636 | AANAT | c.387C>G (p.Ala129=) c.522C>G (p.Ala174=) c.*164C>G (n.*164C>G) n.698C>G c.594C>G (p.Ala198=) c.477C>G (p.Ala159=) c.501C>G (p.Ala167=) n.643C>G | |
| 17 | g.76469733C>T | CA502066634 | AANAT | c.387C>T (p.Ala129=) c.522C>T (p.Ala174=) c.*164C>T (n.*164C>T) n.698C>T c.594C>T (p.Ala198=) c.477C>T (p.Ala159=) c.501C>T (p.Ala167=) n.643C>T | gnomAD v4 |
| 17 | g.76469734T>A | CA401161199 | AANAT | c.388T>A (p.Phe130Ile) c.523T>A (p.Phe175Ile) c.*165T>A (n.*165T>A) n.699T>A c.595T>A (p.Phe199Ile) c.478T>A (p.Phe160Ile) c.502T>A (p.Phe168Ile) n.644T>A | gnomAD v4 |
| 17 | g.76469734T>C | CA401161201 | AANAT | c.388T>C (p.Phe130Leu) c.523T>C (p.Phe175Leu) c.*165T>C (n.*165T>C) n.699T>C c.595T>C (p.Phe199Leu) c.478T>C (p.Phe160Leu) c.502T>C (p.Phe168Leu) n.644T>C | gnomAD v4 |
| 17 | g.76469734T>G | CA401161200 | AANAT | c.388T>G (p.Phe130Val) c.523T>G (p.Phe175Val) c.*165T>G (n.*165T>G) n.699T>G c.595T>G (p.Phe199Val) c.478T>G (p.Phe160Val) c.502T>G (p.Phe168Val) n.644T>G | |
| 17 | g.76469735del | CA2639996609 | AANAT | c.389del (p.Phe130SerfsTer?) c.524del (p.Phe175SerfsTer?) c.*166del (n.*166del) n.700del c.596del (p.Phe199SerfsTer?) c.479del (p.Phe160SerfsTer?) c.503del (p.Phe168SerfsTer?) n.645del | gnomAD v4 |
| 17 | g.76469735T>A | CA401161202 | AANAT | c.389T>A (p.Phe130Tyr) c.524T>A (p.Phe175Tyr) c.*166T>A (n.*166T>A) n.700T>A c.596T>A (p.Phe199Tyr) c.479T>A (p.Phe160Tyr) c.503T>A (p.Phe168Tyr) n.645T>A | |
| 17 | g.76469735T>C | CA401161203 | AANAT | c.389T>C (p.Phe130Ser) c.524T>C (p.Phe175Ser) c.*166T>C (n.*166T>C) n.700T>C c.596T>C (p.Phe199Ser) c.479T>C (p.Phe160Ser) c.503T>C (p.Phe168Ser) n.645T>C | gnomAD v4 |
| 17 | g.76469735T>G | CA401161204 | AANAT | c.389T>G (p.Phe130Cys) c.524T>G (p.Phe175Cys) c.*166T>G (n.*166T>G) n.700T>G c.596T>G (p.Phe199Cys) c.479T>G (p.Phe160Cys) c.503T>G (p.Phe168Cys) n.645T>G | gnomAD v4 |
| 17 | g.76469736C>A | CA401161205 | AANAT | c.390C>A (p.Phe130Leu) c.525C>A (p.Phe175Leu) c.*167C>A (n.*167C>A) n.701C>A c.597C>A (p.Phe199Leu) c.480C>A (p.Phe160Leu) c.504C>A (p.Phe168Leu) n.646C>A | gnomAD v4 |
| 17 | g.76469736C= | CA2276011955 | AANAT | c.390C= (p.Phe130=) c.525C= (p.Phe175=) c.*167C= (n.*167C=) n.701C= c.597C= (p.Phe199=) c.480C= (p.Phe160=) c.504C= (p.Phe168=) n.646C= | |
| 17 | g.76469736C>G | CA401161206 | AANAT | c.390C>G (p.Phe130Leu) c.525C>G (p.Phe175Leu) c.*167C>G (n.*167C>G) n.701C>G c.597C>G (p.Phe199Leu) c.480C>G (p.Phe160Leu) c.504C>G (p.Phe168Leu) n.646C>G | |
| 17 | g.76469736C>T | CA502066638 | AANAT | c.390C>T (p.Phe130=) c.525C>T (p.Phe175=) c.*167C>T (n.*167C>T) n.701C>T c.597C>T (p.Phe199=) c.480C>T (p.Phe160=) c.504C>T (p.Phe168=) n.646C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469737C>A | CA502066639 | AANAT | c.391C>A (p.Arg131=) c.526C>A (p.Arg176=) c.*168C>A (n.*168C>A) n.702C>A c.598C>A (p.Arg200=) c.481C>A (p.Arg161=) c.505C>A (p.Arg169=) n.647C>A | |
| 17 | g.76469737C= | CA2276011956 | AANAT | c.391C= (p.Arg131=) c.526C= (p.Arg176=) c.*168C= (n.*168C=) n.702C= c.598C= (p.Arg200=) c.481C= (p.Arg161=) c.505C= (p.Arg169=) n.647C= | |
| 17 | g.76469737C>G | CA401161207 | AANAT | c.391C>G (p.Arg131Gly) c.526C>G (p.Arg176Gly) c.*168C>G (n.*168C>G) n.702C>G c.598C>G (p.Arg200Gly) c.481C>G (p.Arg161Gly) c.505C>G (p.Arg169Gly) n.647C>G | gnomAD v4 |
| 17 | g.76469737C>T | CA294178169 | AANAT | c.391C>T (p.Arg131Trp) c.526C>T (p.Arg176Trp) c.*168C>T (n.*168C>T) n.702C>T c.598C>T (p.Arg200Trp) c.481C>T (p.Arg161Trp) c.505C>T (p.Arg169Trp) n.647C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.76469738G>A | CA8786585 | AANAT | c.392G>A (p.Arg131Gln) c.527G>A (p.Arg176Gln) c.*169G>A (n.*169G>A) n.703G>A c.599G>A (p.Arg200Gln) c.482G>A (p.Arg161Gln) c.506G>A (p.Arg169Gln) n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469738G>C | CA401161208 | AANAT | c.392G>C (p.Arg131Pro) c.527G>C (p.Arg176Pro) c.*169G>C (n.*169G>C) n.703G>C c.599G>C (p.Arg200Pro) c.482G>C (p.Arg161Pro) c.506G>C (p.Arg169Pro) n.648G>C | gnomAD v4 |
| 17 | g.76469738G= | CA2276011957 | AANAT | c.392G= (p.Arg131=) c.527G= (p.Arg176=) c.*169G= (n.*169G=) n.703G= c.599G= (p.Arg200=) c.482G= (p.Arg161=) c.506G= (p.Arg169=) n.648G= | |
| 17 | g.76469738G>T | CA401161209 | AANAT | c.392G>T (p.Arg131Leu) c.527G>T (p.Arg176Leu) c.*169G>T (n.*169G>T) n.703G>T c.599G>T (p.Arg200Leu) c.482G>T (p.Arg161Leu) c.506G>T (p.Arg169Leu) n.648G>T | gnomAD v4 |
| 17 | g.76469739G>A | CA502066641 | AANAT | c.393G>A (p.Arg131=) c.528G>A (p.Arg176=) c.*170G>A (n.*170G>A) n.704G>A c.600G>A (p.Arg200=) c.483G>A (p.Arg161=) c.507G>A (p.Arg169=) n.649G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.76469739G>C | CA502066643 | AANAT | c.393G>C (p.Arg131=) c.528G>C (p.Arg176=) c.*170G>C (n.*170G>C) n.704G>C c.600G>C (p.Arg200=) c.483G>C (p.Arg161=) c.507G>C (p.Arg169=) n.649G>C | |
| 17 | g.76469739G= | CA2276011958 | AANAT | c.393G= (p.Arg131=) c.528G= (p.Arg176=) c.*170G= (n.*170G=) n.704G= c.600G= (p.Arg200=) c.483G= (p.Arg161=) c.507G= (p.Arg169=) n.649G= | |
| 17 | g.76469739G>T | CA502066642 | AANAT | c.393G>T (p.Arg131=) c.528G>T (p.Arg176=) c.*170G>T (n.*170G>T) n.704G>T c.600G>T (p.Arg200=) c.483G>T (p.Arg161=) c.507G>T (p.Arg169=) n.649G>T | gnomAD v4 |
| 17 | g.76469740C>A | CA401161210 | AANAT | c.394C>A (p.Gln132Lys) c.529C>A (p.Gln177Lys) c.*171C>A (n.*171C>A) n.705C>A c.601C>A (p.Gln201Lys) c.484C>A (p.Gln162Lys) c.508C>A (p.Gln170Lys) n.650C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.76469740C= | CA2276011959 | AANAT | c.394C= (p.Gln132=) c.529C= (p.Gln177=) c.*171C= (n.*171C=) n.705C= c.601C= (p.Gln201=) c.484C= (p.Gln162=) c.508C= (p.Gln170=) n.650C= | |
| 17 | g.76469740C>G | CA401161211 | AANAT | c.394C>G (p.Gln132Glu) c.529C>G (p.Gln177Glu) c.*171C>G (n.*171C>G) n.705C>G c.601C>G (p.Gln201Glu) c.484C>G (p.Gln162Glu) c.508C>G (p.Gln170Glu) n.650C>G | |
| 17 | g.76469740C>T | CA401161212 | AANAT | c.394C>T (p.Gln132Ter) c.529C>T (p.Gln177Ter) c.*171C>T (n.*171C>T) n.705C>T c.601C>T (p.Gln201Ter) c.484C>T (p.Gln162Ter) c.508C>T (p.Gln170Ter) n.650C>T | gnomAD v4 COSMIC COSMIC |
| 17 | g.76469741A>C | CA401161213 | AANAT | c.395A>C (p.Gln132Pro) c.530A>C (p.Gln177Pro) c.*172A>C (n.*172A>C) n.706A>C c.602A>C (p.Gln201Pro) c.485A>C (p.Gln162Pro) c.509A>C (p.Gln170Pro) n.651A>C | |
| 17 | g.76469741A>G | CA401161215 | AANAT | c.395A>G (p.Gln132Arg) c.530A>G (p.Gln177Arg) c.*172A>G (n.*172A>G) n.706A>G c.602A>G (p.Gln201Arg) c.485A>G (p.Gln162Arg) c.509A>G (p.Gln170Arg) n.651A>G | |
| 17 | g.76469741A>T | CA401161214 | AANAT | c.395A>T (p.Gln132Leu) c.530A>T (p.Gln177Leu) c.*172A>T (n.*172A>T) n.706A>T c.602A>T (p.Gln201Leu) c.485A>T (p.Gln162Leu) c.509A>T (p.Gln170Leu) n.651A>T | |
| 17 | g.76469742G>A | CA294178174 | AANAT | c.396G>A (p.Gln132=) c.531G>A (p.Gln177=) c.*173G>A (n.*173G>A) n.707G>A c.603G>A (p.Gln201=) c.486G>A (p.Gln162=) c.510G>A (p.Gln170=) n.652G>A | dbSNP gnomAD v4 |
| 17 | g.76469742G>C | CA401161216 | AANAT | c.396G>C (p.Gln132His) c.531G>C (p.Gln177His) c.*173G>C (n.*173G>C) n.707G>C c.603G>C (p.Gln201His) c.486G>C (p.Gln162His) c.510G>C (p.Gln170His) n.652G>C | |
| 17 | g.76469742G= | CA2276011960 | AANAT | c.396G= (p.Gln132=) c.531G= (p.Gln177=) c.*173G= (n.*173G=) n.707G= c.603G= (p.Gln201=) c.486G= (p.Gln162=) c.510G= (p.Gln170=) n.652G= | |
| 17 | g.76469742G>T | CA401161217 | AANAT | c.396G>T (p.Gln132His) c.531G>T (p.Gln177His) c.*173G>T (n.*173G>T) n.707G>T c.603G>T (p.Gln201His) c.486G>T (p.Gln162His) c.510G>T (p.Gln170His) n.652G>T | gnomAD v4 |
| 17 | g.76469743C>A | CA401161218 | AANAT | c.397C>A (p.Gln133Lys) c.532C>A (p.Gln178Lys) c.*174C>A (n.*174C>A) n.708C>A c.604C>A (p.Gln202Lys) c.487C>A (p.Gln163Lys) c.511C>A (p.Gln171Lys) n.653C>A | gnomAD v4 |
| 17 | g.76469743C>G | CA401161219 | AANAT | c.397C>G (p.Gln133Glu) c.532C>G (p.Gln178Glu) c.*174C>G (n.*174C>G) n.708C>G c.604C>G (p.Gln202Glu) c.487C>G (p.Gln163Glu) c.511C>G (p.Gln171Glu) n.653C>G | |
| 17 | g.76469743C>T | CA401161220 | AANAT | c.397C>T (p.Gln133Ter) c.532C>T (p.Gln178Ter) c.*174C>T (n.*174C>T) n.708C>T c.604C>T (p.Gln202Ter) c.487C>T (p.Gln163Ter) c.511C>T (p.Gln171Ter) n.653C>T | gnomAD v4 |
| 17 | g.76469744A>C | CA401161221 | AANAT | c.398A>C (p.Gln133Pro) c.533A>C (p.Gln178Pro) c.*175A>C (n.*175A>C) n.709A>C c.605A>C (p.Gln202Pro) c.488A>C (p.Gln163Pro) c.512A>C (p.Gln171Pro) n.654A>C | |
| 17 | g.76469744A>G | CA401161222 | AANAT | c.398A>G (p.Gln133Arg) c.533A>G (p.Gln178Arg) c.*175A>G (n.*175A>G) n.709A>G c.605A>G (p.Gln202Arg) c.488A>G (p.Gln163Arg) c.512A>G (p.Gln171Arg) n.654A>G | |
| 17 | g.76469744A>T | CA401161223 | AANAT | c.398A>T (p.Gln133Leu) c.533A>T (p.Gln178Leu) c.*175A>T (n.*175A>T) n.709A>T c.605A>T (p.Gln202Leu) c.488A>T (p.Gln163Leu) c.512A>T (p.Gln171Leu) n.654A>T |