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 |
|---|---|---|---|---|---|
| 5 | g.33944787A= | CA1538206728 | SLC45A2 | c.1454T= (p.Leu485=) c.1052T= (p.Leu351=) | |
| 5 | g.33944787A>C | CA359387256 | SLC45A2 | c.1454T>G (p.Leu485Arg) c.1052T>G (p.Leu351Arg) | |
| 5 | g.33944787A>G | CA351303 | SLC45A2 | c.1454T>C (p.Leu485Pro) c.1052T>C (p.Leu351Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.33944787A>T | CA359387258 | SLC45A2 | c.1454T>A (p.Leu485Gln) c.1052T>A (p.Leu351Gln) | |
| 5 | g.33944788G>A | CA3225453 | SLC45A2 | c.1453C>T (p.Leu485=) c.1051C>T (p.Leu351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.33944788G>C | CA359387261 | SLC45A2 | c.1453C>G (p.Leu485Val) c.1051C>G (p.Leu351Val) | |
| 5 | g.33944788G= | CA1538206733 | SLC45A2 | c.1453C= (p.Leu485=) c.1051C= (p.Leu351=) | |
| 5 | g.33944788G>T | CA359387263 | SLC45A2 | c.1453C>A (p.Leu485Met) c.1051C>A (p.Leu351Met) | |
| 5 | g.33944789C>A | CA359387265 | SLC45A2 | c.1452G>T (p.Gln484His) c.1050G>T (p.Gln350His) | gnomAD v4 |
| 5 | g.33944789C>G | CA359387267 | SLC45A2 | c.1452G>C (p.Gln484His) c.1050G>C (p.Gln350His) | |
| 5 | g.33944789C>T | CA443658870 | SLC45A2 | c.1452G>A (p.Gln484=) c.1050G>A (p.Gln350=) | |
| 5 | g.33944790T>A | CA359387271 | SLC45A2 | c.1451A>T (p.Gln484Leu) c.1049A>T (p.Gln350Leu) | dbSNP |
| 5 | g.33944790T>C | CA359387273 | SLC45A2 | c.1451A>G (p.Gln484Arg) c.1049A>G (p.Gln350Arg) | dbSNP |
| 5 | g.33944790T>G | CA359387269 | SLC45A2 | c.1451A>C (p.Gln484Pro) c.1049A>C (p.Gln350Pro) | |
| 5 | g.33944790T= | CA1538206742 | SLC45A2 | c.1451A= (p.Gln484=) c.1049A= (p.Gln350=) | |
| 5 | g.33944791G>A | CA359387275 | SLC45A2 | c.1450C>T (p.Gln484Ter) c.1048C>T (p.Gln350Ter) | ClinVar |
| 5 | g.33944791G>C | CA359387276 | SLC45A2 | c.1450C>G (p.Gln484Glu) c.1048C>G (p.Gln350Glu) | |
| 5 | g.33944791G= | CA1538206747 | SLC45A2 | c.1450C= (p.Gln484=) c.1048C= (p.Gln350=) | |
| 5 | g.33944791G>T | CA359387278 | SLC45A2 | c.1450C>A (p.Gln484Lys) c.1048C>A (p.Gln350Lys) | dbSNP |
| 5 | g.33944792C>A | CA443658873 | SLC45A2 | c.1449G>T (p.Val483=) c.1047G>T (p.Val349=) | |
| 5 | g.33944792C>G | CA443658872 | SLC45A2 | c.1449G>C (p.Val483=) c.1047G>C (p.Val349=) | |
| 5 | g.33944792C>T | CA443658871 | SLC45A2 | c.1449G>A (p.Val483=) c.1047G>A (p.Val349=) | |
| 5 | g.33944793A>C | CA359387280 | SLC45A2 | c.1448T>G (p.Val483Gly) c.1046T>G (p.Val349Gly) | |
| 5 | g.33944793A>G | CA359387282 | SLC45A2 | c.1448T>C (p.Val483Ala) c.1046T>C (p.Val349Ala) | |
| 5 | g.33944793A>T | CA359387284 | SLC45A2 | c.1448T>A (p.Val483Glu) c.1046T>A (p.Val349Glu) | |
| 5 | g.33944794C>A | CA359387286 | SLC45A2 | c.1447G>T (p.Val483Leu) c.1045G>T (p.Val349Leu) | |
| 5 | g.33944794C= | CA1538206753 | SLC45A2 | c.1447G= (p.Val483=) c.1045G= (p.Val349=) | |
| 5 | g.33944794C>G | CA116871857 | SLC45A2 | c.1447G>C (p.Val483Leu) c.1045G>C (p.Val349Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.33944794C>T | CA359387288 | SLC45A2 | c.1447G>A (p.Val483Met) c.1045G>A (p.Val349Met) | gnomAD v4 |
| 5 | g.33944795C>A | CA359387291 | SLC45A2 | c.1446G>T (p.Met482Ile) c.1044G>T (p.Met348Ile) | |
| 5 | g.33944795C>G | CA359387292 | SLC45A2 | c.1446G>C (p.Met482Ile) c.1044G>C (p.Met348Ile) | |
| 5 | g.33944795C>T | CA359387294 | SLC45A2 | c.1446G>A (p.Met482Ile) c.1044G>A (p.Met348Ile) | |
| 5 | g.33944796A>C | CA359387298 | SLC45A2 | c.1445T>G (p.Met482Arg) c.1043T>G (p.Met348Arg) | ClinVar gnomAD v4 |
| 5 | g.33944796A>G | CA359387300 | SLC45A2 | c.1445T>C (p.Met482Thr) c.1043T>C (p.Met348Thr) | gnomAD v4 |
| 5 | g.33944796A>T | CA359387296 | SLC45A2 | c.1445T>A (p.Met482Lys) c.1043T>A (p.Met348Lys) | |
| 5 | g.33944797T>A | CA359387302 | SLC45A2 | c.1444A>T (p.Met482Leu) c.1042A>T (p.Met348Leu) | |
| 5 | g.33944797T>C | CA359387304 | SLC45A2 | c.1444A>G (p.Met482Val) c.1042A>G (p.Met348Val) | gnomAD v4 |
| 5 | g.33944797T>G | CA359387306 | SLC45A2 | c.1444A>C (p.Met482Leu) c.1042A>C (p.Met348Leu) | |
| 5 | g.33944798G>A | CA443658876 | SLC45A2 | c.1443C>T (p.Cys481=) c.1041C>T (p.Cys347=) | |
| 5 | g.33944798G>C | CA359387308 | SLC45A2 | c.1443C>G (p.Cys481Trp) c.1041C>G (p.Cys347Trp) | dbSNP |
| 5 | g.33944798G>T | CA359387309 | SLC45A2 | c.1443C>A (p.Cys481Ter) c.1041C>A (p.Cys347Ter) | |
| 5 | g.33944799C>A | CA359387315 | SLC45A2 | c.1442G>T (p.Cys481Phe) c.1040G>T (p.Cys347Phe) | |
| 5 | g.33944799C>G | CA359387314 | SLC45A2 | c.1442G>C (p.Cys481Ser) c.1040G>C (p.Cys347Ser) | |
| 5 | g.33944799C>T | CA359387312 | SLC45A2 | c.1442G>A (p.Cys481Tyr) c.1040G>A (p.Cys347Tyr) | gnomAD v4 |
| 5 | g.33944800A>C | CA359387318 | SLC45A2 | c.1441T>G (p.Cys481Gly) c.1039T>G (p.Cys347Gly) | |
| 5 | g.33944800A>G | CA359387320 | SLC45A2 | c.1441T>C (p.Cys481Arg) c.1039T>C (p.Cys347Arg) | |
| 5 | g.33944800A>T | CA359387322 | SLC45A2 | c.1441T>A (p.Cys481Ser) c.1039T>A (p.Cys347Ser) | |
| 5 | g.33944801T>A | CA443658878 | SLC45A2 | c.1440A>T (p.Thr480=) c.1038A>T (p.Thr346=) | gnomAD v4 |
| 5 | g.33944801T>C | CA443658879 | SLC45A2 | c.1440A>G (p.Thr480=) c.1038A>G (p.Thr346=) | dbSNP |
| 5 | g.33944801T>G | CA443658880 | SLC45A2 | c.1440A>C (p.Thr480=) c.1038A>C (p.Thr346=) |