UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625195C>A | CA412167002 | ARSA | c.1480G>T (p.Gly494Cys) c.1222G>T (p.Gly408Cys) c.180+168G>T c.*213G>T (n.*213G>T) c.1594G>T (p.Gly532Cys) | gnomAD v4 |
| 22 | g.50625195C= | CA2410958356 | ARSA | c.1480G= (p.Gly494=) c.1222G= (p.Gly408=) c.180+168G= c.*213G= (n.*213G=) c.1594G= (p.Gly532=) | |
| 22 | g.50625195C>G | CA412167005 | ARSA | c.1480G>C (p.Gly494Arg) c.1222G>C (p.Gly408Arg) c.180+168G>C c.*213G>C (n.*213G>C) c.1594G>C (p.Gly532Arg) | |
| 22 | g.50625195C>T | CA325531161 | ARSA | c.1480G>A (p.Gly494Ser) c.1222G>A (p.Gly408Ser) c.180+168G>A c.*213G>A (n.*213G>A) c.1594G>A (p.Gly532Ser) | ClinVar dbSNP |
| 22 | g.50625196A>C | CA515390892 | ARSA | c.1479T>G (p.Pro493=) c.1221T>G (p.Pro407=) c.180+167T>G c.*212T>G (n.*212T>G) c.1593T>G (p.Pro531=) | |
| 22 | g.50625196A>G | CA515390893 | ARSA | c.1479T>C (p.Pro493=) c.1221T>C (p.Pro407=) c.180+167T>C c.*212T>C (n.*212T>C) c.1593T>C (p.Pro531=) | gnomAD v4 |
| 22 | g.50625196A>T | CA515390895 | ARSA | c.1479T>A (p.Pro493=) c.1221T>A (p.Pro407=) c.180+167T>A c.*212T>A (n.*212T>A) c.1593T>A (p.Pro531=) | |
| 22 | g.50625197G>A | CA412167013 | ARSA | c.1478C>T (p.Pro493Leu) c.1220C>T (p.Pro407Leu) c.180+166C>T c.*211C>T (n.*211C>T) c.1592C>T (p.Pro531Leu) | gnomAD v4 |
| 22 | g.50625197G>C | CA412167018 | ARSA | c.1478C>G (p.Pro493Arg) c.1220C>G (p.Pro407Arg) c.180+166C>G c.*211C>G (n.*211C>G) c.1592C>G (p.Pro531Arg) | gnomAD v4 |
| 22 | g.50625197G>T | CA412167024 | ARSA | c.1478C>A (p.Pro493His) c.1220C>A (p.Pro407His) c.180+166C>A c.*211C>A (n.*211C>A) c.1592C>A (p.Pro531His) | gnomAD v4 |
| 22 | g.50625198G>A | CA412167031 | ARSA | c.1477C>T (p.Pro493Ser) c.1219C>T (p.Pro407Ser) c.180+165C>T c.*210C>T (n.*210C>T) c.1591C>T (p.Pro531Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625198G>C | CA412167034 | ARSA | c.1477C>G (p.Pro493Ala) c.1219C>G (p.Pro407Ala) c.180+165C>G c.*210C>G (n.*210C>G) c.1591C>G (p.Pro531Ala) | |
| 22 | g.50625198G= | CA2410958357 | ARSA | c.1477C= (p.Pro493=) c.1219C= (p.Pro407=) c.180+165C= c.*210C= (n.*210C=) c.1591C= (p.Pro531=) | |
| 22 | g.50625198G>T | CA412167036 | ARSA | c.1477C>A (p.Pro493Thr) c.1219C>A (p.Pro407Thr) c.180+165C>A c.*210C>A (n.*210C>A) c.1591C>A (p.Pro531Thr) | |
| 22 | g.50625199A>C | CA412167041 | ARSA | c.1476T>G (p.His492Gln) c.1218T>G (p.His406Gln) c.180+164T>G c.*209T>G (n.*209T>G) c.1590T>G (p.His530Gln) | |
| 22 | g.50625199A>G | CA515390900 | ARSA | c.1476T>C (p.His492=) c.1218T>C (p.His406=) c.180+164T>C c.*209T>C (n.*209T>C) c.1590T>C (p.His530=) | |
| 22 | g.50625199A>T | CA412167040 | ARSA | c.1476T>A (p.His492Gln) c.1218T>A (p.His406Gln) c.180+164T>A c.*209T>A (n.*209T>A) c.1590T>A (p.His530Gln) | |
| 22 | g.50625200T>A | CA412167045 | ARSA | c.1475A>T (p.His492Leu) c.1217A>T (p.His406Leu) c.180+163A>T c.*208A>T (n.*208A>T) c.1589A>T (p.His530Leu) | gnomAD v4 |
| 22 | g.50625200T>C | CA412167064 | ARSA | c.1475A>G (p.His492Arg) c.1217A>G (p.His406Arg) c.180+163A>G c.*208A>G (n.*208A>G) c.1589A>G (p.His530Arg) | |
| 22 | g.50625200T>G | CA412167067 | ARSA | c.1475A>C (p.His492Pro) c.1217A>C (p.His406Pro) c.180+163A>C c.*208A>C (n.*208A>C) c.1589A>C (p.His530Pro) | |
| 22 | g.50625201G>A | CA412167072 | ARSA | c.1474C>T (p.His492Tyr) c.1216C>T (p.His406Tyr) c.180+162C>T c.*207C>T (n.*207C>T) c.1588C>T (p.His530Tyr) | |
| 22 | g.50625201G>C | CA412167076 | ARSA | c.1474C>G (p.His492Asp) c.1216C>G (p.His406Asp) c.180+162C>G c.*207C>G (n.*207C>G) c.1588C>G (p.His530Asp) | |
| 22 | g.50625201G>T | CA412167080 | ARSA | c.1474C>A (p.His492Asn) c.1216C>A (p.His406Asn) c.180+162C>A c.*207C>A (n.*207C>A) c.1588C>A (p.His530Asn) | |
| 22 | g.50625202A= | CA2410958358 | ARSA | c.1473T= (p.Cys491=) c.1215T= (p.Cys405=) c.180+161T= c.*206T= (n.*206T=) c.1587T= (p.Cys529=) | |
| 22 | g.50625202A>C | CA412167088 | ARSA | c.1473T>G (p.Cys491Trp) c.1215T>G (p.Cys405Trp) c.180+161T>G c.*206T>G (n.*206T>G) c.1587T>G (p.Cys529Trp) | |
| 22 | g.50625202A>G | CA10324721 | ARSA | c.1473T>C (p.Cys491=) c.1215T>C (p.Cys405=) c.180+161T>C c.*206T>C (n.*206T>C) c.1587T>C (p.Cys529=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625202A>T | CA412167094 | ARSA | c.1473T>A (p.Cys491Ter) c.1215T>A (p.Cys405Ter) c.180+161T>A c.*206T>A (n.*206T>A) c.1587T>A (p.Cys529Ter) | |
| 22 | g.50625203C>A | CA412167104 | ARSA | c.1472G>T (p.Cys491Phe) c.1214G>T (p.Cys405Phe) c.180+160G>T c.*205G>T (n.*205G>T) c.1586G>T (p.Cys529Phe) | gnomAD v4 |
| 22 | g.50625203C= | CA2410958359 | ARSA | c.1472G= (p.Cys491=) c.1214G= (p.Cys405=) c.180+160G= c.*205G= (n.*205G=) c.1586G= (p.Cys529=) | |
| 22 | g.50625203C>G | CA412167109 | ARSA | c.1472G>C (p.Cys491Ser) c.1214G>C (p.Cys405Ser) c.180+160G>C c.*205G>C (n.*205G>C) c.1586G>C (p.Cys529Ser) | |
| 22 | g.50625203C>T | CA16616942 | ARSA | c.1472G>A (p.Cys491Tyr) c.1214G>A (p.Cys405Tyr) c.180+160G>A c.*205G>A (n.*205G>A) c.1586G>A (p.Cys529Tyr) | ClinVar dbSNP |
| 22 | g.50625204A= | CA2410958360 | ARSA | c.1471T= (p.Cys491=) c.1213T= (p.Cys405=) c.180+159T= c.*204T= (n.*204T=) c.1585T= (p.Cys529=) | |
| 22 | g.50625204A>C | CA219000 | ARSA | c.1471T>G (p.Cys491Gly) c.1213T>G (p.Cys405Gly) c.180+159T>G c.*204T>G (n.*204T>G) c.1585T>G (p.Cys529Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625204A>G | CA233473 | ARSA | c.1471T>C (p.Cys491Arg) c.1213T>C (p.Cys405Arg) c.180+159T>C c.*204T>C (n.*204T>C) c.1585T>C (p.Cys529Arg) | ClinVar dbSNP |
| 22 | g.50625204A>T | CA412167118 | ARSA | c.1471T>A (p.Cys491Ser) c.1213T>A (p.Cys405Ser) c.180+159T>A c.*204T>A (n.*204T>A) c.1585T>A (p.Cys529Ser) | |
| 22 | g.50625205G>A | CA325531168 | ARSA | c.1470C>T (p.Cys490=) c.1212C>T (p.Cys404=) c.180+158C>T c.*203C>T (n.*203C>T) c.1584C>T (p.Cys528=) | dbSNP gnomAD v4 |
| 22 | g.50625205G>C | CA412167132 | ARSA | c.1470C>G (p.Cys490Trp) c.1212C>G (p.Cys404Trp) c.180+158C>G c.*203C>G (n.*203C>G) c.1584C>G (p.Cys528Trp) | |
| 22 | g.50625205G= | CA2410958361 | ARSA | c.1470C= (p.Cys490=) c.1212C= (p.Cys404=) c.180+158C= c.*203C= (n.*203C=) c.1584C= (p.Cys528=) | |
| 22 | g.50625205G>T | CA412167135 | ARSA | c.1470C>A (p.Cys490Ter) c.1212C>A (p.Cys404Ter) c.180+158C>A c.*203C>A (n.*203C>A) c.1584C>A (p.Cys528Ter) | |
| 22 | g.50625206C>A | CA412167140 | ARSA | c.1469G>T (p.Cys490Phe) c.1211G>T (p.Cys404Phe) c.180+157G>T c.*202G>T (n.*202G>T) c.1583G>T (p.Cys528Phe) | |
| 22 | g.50625206C>G | CA412167143 | ARSA | c.1469G>C (p.Cys490Ser) c.1211G>C (p.Cys404Ser) c.180+157G>C c.*202G>C (n.*202G>C) c.1583G>C (p.Cys528Ser) | |
| 22 | g.50625206C>T | CA412167145 | ARSA | c.1469G>A (p.Cys490Tyr) c.1211G>A (p.Cys404Tyr) c.180+157G>A c.*202G>A (n.*202G>A) c.1583G>A (p.Cys528Tyr) | gnomAD v4 |
| 22 | g.50625207A= | CA2410958362 | ARSA | c.1468T= (p.Cys490=) c.1210T= (p.Cys404=) c.180+156T= c.*201T= (n.*201T=) c.1582T= (p.Cys528=) | |
| 22 | g.50625207A>C | CA412167150 | ARSA | c.1468T>G (p.Cys490Gly) c.1210T>G (p.Cys404Gly) c.180+156T>G c.*201T>G (n.*201T>G) c.1582T>G (p.Cys528Gly) | |
| 22 | g.50625207A>G | CA10324722 | ARSA | c.1468T>C (p.Cys490Arg) c.1210T>C (p.Cys404Arg) c.180+156T>C c.*201T>C (n.*201T>C) c.1582T>C (p.Cys528Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625207A>T | CA412167153 | ARSA | c.1468T>A (p.Cys490Ser) c.1210T>A (p.Cys404Ser) c.180+156T>A c.*201T>A (n.*201T>A) c.1582T>A (p.Cys528Ser) | |
| 22 | g.50625208G>A | CA515390926 | ARSA | c.1467C>T (p.Ile489=) c.1209C>T (p.Ile403=) c.180+155C>T c.*200C>T (n.*200C>T) c.1581C>T (p.Ile527=) | gnomAD v4 |
| 22 | g.50625208G>C | CA412167176 | ARSA | c.1467C>G (p.Ile489Met) c.1209C>G (p.Ile403Met) c.180+155C>G c.*200C>G (n.*200C>G) c.1581C>G (p.Ile527Met) | |
| 22 | g.50625208G>T | CA515390927 | ARSA | c.1467C>A (p.Ile489=) c.1209C>A (p.Ile403=) c.180+155C>A c.*200C>A (n.*200C>A) c.1581C>A (p.Ile527=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625209A>C | CA412167198 | ARSA | c.1466T>G (p.Ile489Ser) c.1208T>G (p.Ile403Ser) c.180+154T>G c.*199T>G (n.*199T>G) c.1580T>G (p.Ile527Ser) |