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 |
|---|---|---|---|---|---|
| X | g.43731694T>A | CA413007381 | MAOA | c.397T>A (p.Cys133Ser) c.106T>A (p.Cys36Ser) n.928T>A n.352T>A c.691T>A (p.Cys231Ser) c.796T>A (p.Cys266Ser) | |
| X | g.43731694T>C | CA413007383 | MAOA | c.397T>C (p.Cys133Arg) c.106T>C (p.Cys36Arg) n.928T>C n.352T>C c.691T>C (p.Cys231Arg) c.796T>C (p.Cys266Arg) | |
| X | g.43731694T>G | CA413007385 | MAOA | c.397T>G (p.Cys133Gly) c.106T>G (p.Cys36Gly) n.928T>G n.352T>G c.691T>G (p.Cys231Gly) c.796T>G (p.Cys266Gly) | |
| X | g.43731695G>A | CA413007391 | MAOA | c.398G>A (p.Cys133Tyr) c.107G>A (p.Cys36Tyr) n.929G>A n.353G>A c.692G>A (p.Cys231Tyr) c.797G>A (p.Cys266Tyr) | |
| X | g.43731695G>C | CA413007389 | MAOA | c.398G>C (p.Cys133Ser) c.107G>C (p.Cys36Ser) n.929G>C n.353G>C c.692G>C (p.Cys231Ser) c.797G>C (p.Cys266Ser) | |
| X | g.43731695G= | CA2426670049 | MAOA | c.398G= (p.Cys133=) c.107G= (p.Cys36=) n.929G= n.353G= c.692G= (p.Cys231=) c.797G= (p.Cys266=) | |
| X | g.43731695G>T | CA163205 | MAOA | c.398G>T (p.Cys133Phe) c.107G>T (p.Cys36Phe) n.929G>T n.353G>T c.692G>T (p.Cys231Phe) c.797G>T (p.Cys266Phe) | ClinVar dbSNP |
| X | g.43731695_43731696delinsTT | CA2695233737 | MAOA | c.398_399delinsTT (p.Cys133Phe) c.107_108delinsTT (p.Cys36Phe) n.929_930delinsTT n.353_354delinsTT c.692_693delinsTT (p.Cys231Phe) c.797_798delinsTT (p.Cys266Phe) | |
| X | g.43731696C>A | CA413007394 | MAOA | c.399C>A (p.Cys133Ter) c.108C>A (p.Cys36Ter) n.930C>A n.354C>A c.693C>A (p.Cys231Ter) c.798C>A (p.Cys266Ter) | |
| X | g.43731696C>G | CA413007396 | MAOA | c.399C>G (p.Cys133Trp) c.108C>G (p.Cys36Trp) n.930C>G n.354C>G c.693C>G (p.Cys231Trp) c.798C>G (p.Cys266Trp) | |
| X | g.43731696C>T | CA516138079 | MAOA | c.399C>T (p.Cys133=) c.108C>T (p.Cys36=) n.930C>T n.354C>T c.693C>T (p.Cys231=) c.798C>T (p.Cys266=) | |
| X | g.43731697A>C | CA413007399 | MAOA | c.400A>C (p.Lys134Gln) c.109A>C (p.Lys37Gln) n.931A>C n.355A>C c.694A>C (p.Lys232Gln) c.799A>C (p.Lys267Gln) | |
| X | g.43731697A>G | CA413007403 | MAOA | c.400A>G (p.Lys134Glu) c.109A>G (p.Lys37Glu) n.931A>G n.355A>G c.694A>G (p.Lys232Glu) c.799A>G (p.Lys267Glu) | |
| X | g.43731697A>T | CA413007401 | MAOA | c.400A>T (p.Lys134Ter) c.109A>T (p.Lys37Ter) n.931A>T n.355A>T c.694A>T (p.Lys232Ter) c.799A>T (p.Lys267Ter) | |
| X | g.43731698A>C | CA413007406 | MAOA | c.401A>C (p.Lys134Thr) c.110A>C (p.Lys37Thr) n.932A>C n.356A>C c.695A>C (p.Lys232Thr) c.800A>C (p.Lys267Thr) | |
| X | g.43731698A>G | CA413007410 | MAOA | c.401A>G (p.Lys134Arg) c.110A>G (p.Lys37Arg) n.932A>G n.356A>G c.695A>G (p.Lys232Arg) c.800A>G (p.Lys267Arg) | |
| X | g.43731698A>T | CA413007408 | MAOA | c.401A>T (p.Lys134Ile) c.110A>T (p.Lys37Ile) n.932A>T n.356A>T c.695A>T (p.Lys232Ile) c.800A>T (p.Lys267Ile) | |
| X | g.43731699A>C | CA413007412 | MAOA | c.402A>C (p.Lys134Asn) c.111A>C (p.Lys37Asn) n.933A>C n.357A>C c.696A>C (p.Lys232Asn) c.801A>C (p.Lys267Asn) | |
| X | g.43731699A>G | CA516138080 | MAOA | c.402A>G (p.Lys134=) c.111A>G (p.Lys37=) n.933A>G n.357A>G c.696A>G (p.Lys232=) c.801A>G (p.Lys267=) | |
| X | g.43731699A>T | CA413007414 | MAOA | c.402A>T (p.Lys134Asn) c.111A>T (p.Lys37Asn) n.933A>T n.357A>T c.696A>T (p.Lys232Asn) c.801A>T (p.Lys267Asn) | |
| X | g.43731700T>A | CA413007417 | MAOA | c.403T>A (p.Tyr135Asn) c.112T>A (p.Tyr38Asn) n.934T>A n.358T>A c.697T>A (p.Tyr233Asn) c.802T>A (p.Tyr268Asn) | |
| X | g.43731700T>C | CA413007419 | MAOA | c.403T>C (p.Tyr135His) c.112T>C (p.Tyr38His) n.934T>C n.358T>C c.697T>C (p.Tyr233His) c.802T>C (p.Tyr268His) | |
| X | g.43731700T>G | CA413007421 | MAOA | c.403T>G (p.Tyr135Asp) c.112T>G (p.Tyr38Asp) n.934T>G n.358T>G c.697T>G (p.Tyr233Asp) c.802T>G (p.Tyr268Asp) | |
| X | g.43731701A>C | CA413007425 | MAOA | c.404A>C (p.Tyr135Ser) c.113A>C (p.Tyr38Ser) n.935A>C n.359A>C c.698A>C (p.Tyr233Ser) c.803A>C (p.Tyr268Ser) | |
| X | g.43731701A>G | CA413007427 | MAOA | c.404A>G (p.Tyr135Cys) c.113A>G (p.Tyr38Cys) n.935A>G n.359A>G c.698A>G (p.Tyr233Cys) c.803A>G (p.Tyr268Cys) | |
| X | g.43731701A>T | CA413007428 | MAOA | c.404A>T (p.Tyr135Phe) c.113A>T (p.Tyr38Phe) n.935A>T n.359A>T c.698A>T (p.Tyr233Phe) c.803A>T (p.Tyr268Phe) | |
| X | g.43731702C>A | CA413007432 | MAOA | c.405C>A (p.Tyr135Ter) c.114C>A (p.Tyr38Ter) n.936C>A n.360C>A c.699C>A (p.Tyr233Ter) c.804C>A (p.Tyr268Ter) | |
| X | g.43731702C= | CA2426670050 | MAOA | c.405C= (p.Tyr135=) c.114C= (p.Tyr38=) n.936C= n.360C= c.699C= (p.Tyr233=) c.804C= (p.Tyr268=) | |
| X | g.43731702C>G | CA413007434 | MAOA | c.405C>G (p.Tyr135Ter) c.114C>G (p.Tyr38Ter) n.936C>G n.360C>G c.699C>G (p.Tyr233Ter) c.804C>G (p.Tyr268Ter) | |
| X | g.43731702C>T | CA10390843 | MAOA | c.405C>T (p.Tyr135=) c.114C>T (p.Tyr38=) n.936C>T n.360C>T c.699C>T (p.Tyr233=) c.804C>T (p.Tyr268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.43731703G>A | CA329466102 | MAOA | c.406G>A (p.Val136Ile) c.115G>A (p.Val39Ile) n.937G>A n.361G>A c.700G>A (p.Val234Ile) c.805G>A (p.Val269Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.43731703G>C | CA10390844 | MAOA | c.406G>C (p.Val136Leu) c.115G>C (p.Val39Leu) n.937G>C n.361G>C c.700G>C (p.Val234Leu) c.805G>C (p.Val269Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.43731703G= | CA2426670051 | MAOA | c.406G= (p.Val136=) c.115G= (p.Val39=) n.937G= n.361G= c.700G= (p.Val234=) c.805G= (p.Val269=) | |
| X | g.43731703G>T | CA413007440 | MAOA | c.406G>T (p.Val136Leu) c.115G>T (p.Val39Leu) n.937G>T n.361G>T c.700G>T (p.Val234Leu) c.805G>T (p.Val269Leu) | |
| X | g.43731704T>A | CA413007443 | MAOA | c.407T>A (p.Val136Glu) c.116T>A (p.Val39Glu) n.938T>A n.362T>A c.701T>A (p.Val234Glu) c.806T>A (p.Val269Glu) | |
| X | g.43731704T>C | CA413007445 | MAOA | c.407T>C (p.Val136Ala) c.116T>C (p.Val39Ala) n.938T>C n.362T>C c.701T>C (p.Val234Ala) c.806T>C (p.Val269Ala) | |
| X | g.43731704T>G | CA413007447 | MAOA | c.407T>G (p.Val136Gly) c.116T>G (p.Val39Gly) n.938T>G n.362T>G c.701T>G (p.Val234Gly) c.806T>G (p.Val269Gly) | |
| X | g.43731705A= | CA2426670052 | MAOA | c.408A= (p.Val136=) c.117A= (p.Val39=) n.939A= n.363A= c.702A= (p.Val234=) c.807A= (p.Val269=) | |
| X | g.43731705A>C | CA516138081 | MAOA | c.408A>C (p.Val136=) c.117A>C (p.Val39=) n.939A>C n.363A>C c.702A>C (p.Val234=) c.807A>C (p.Val269=) | |
| X | g.43731705A>G | CA516138082 | MAOA | c.408A>G (p.Val136=) c.117A>G (p.Val39=) n.939A>G n.363A>G c.702A>G (p.Val234=) c.807A>G (p.Val269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.43731705A>T | CA516138083 | MAOA | c.408A>T (p.Val136=) c.117A>T (p.Val39=) n.939A>T n.363A>T c.702A>T (p.Val234=) c.807A>T (p.Val269=) | |
| X | g.43731706A>C | CA413007451 | MAOA | c.409A>C (p.Ile137Leu) c.118A>C (p.Ile40Leu) n.940A>C n.364A>C c.703A>C (p.Ile235Leu) c.808A>C (p.Ile270Leu) | |
| X | g.43731706A>G | CA413007452 | MAOA | c.409A>G (p.Ile137Val) c.118A>G (p.Ile40Val) n.940A>G n.364A>G c.703A>G (p.Ile235Val) c.808A>G (p.Ile270Val) | |
| X | g.43731706A>T | CA413007455 | MAOA | c.409A>T (p.Ile137Phe) c.118A>T (p.Ile40Phe) n.940A>T n.364A>T c.703A>T (p.Ile235Phe) c.808A>T (p.Ile270Phe) | |
| X | g.43731707T>A | CA413007457 | MAOA | c.410T>A (p.Ile137Asn) c.119T>A (p.Ile40Asn) n.941T>A n.365T>A c.704T>A (p.Ile235Asn) c.809T>A (p.Ile270Asn) | |
| X | g.43731707T>C | CA413007459 | MAOA | c.410T>C (p.Ile137Thr) c.119T>C (p.Ile40Thr) n.941T>C n.365T>C c.704T>C (p.Ile235Thr) c.809T>C (p.Ile270Thr) | |
| X | g.43731707T>G | CA413007461 | MAOA | c.410T>G (p.Ile137Ser) c.119T>G (p.Ile40Ser) n.941T>G n.365T>G c.704T>G (p.Ile235Ser) c.809T>G (p.Ile270Ser) | |
| X | g.43731708T>A | CA516138084 | MAOA | c.411T>A (p.Ile137=) c.120T>A (p.Ile40=) n.942T>A n.366T>A c.705T>A (p.Ile235=) c.810T>A (p.Ile270=) | |
| X | g.43731708T>C | CA516138085 | MAOA | c.411T>C (p.Ile137=) c.120T>C (p.Ile40=) n.942T>C n.366T>C c.705T>C (p.Ile235=) c.810T>C (p.Ile270=) | |
| X | g.43731708T>G | CA413007464 | MAOA | c.411T>G (p.Ile137Met) c.120T>G (p.Ile40Met) n.942T>G n.366T>G c.705T>G (p.Ile235Met) c.810T>G (p.Ile270Met) |