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 |
|---|---|---|---|---|---|
| 12 | g.102840450T>A | CA386493016 | PAH | c.1265A>T (p.Glu422Val) c.1250A>T (p.Glu417Val) n.927A>T c.369A>T n.780A>T c.1208A>T (p.Glu403Val) | |
| 12 | g.102840450T>C | CA386493017 | PAH | c.1265A>G (p.Glu422Gly) c.1250A>G (p.Glu417Gly) n.927A>G c.369A>G n.780A>G c.1208A>G (p.Glu403Gly) | |
| 12 | g.102840450T>G | CA386493018 | PAH | c.1265A>C (p.Glu422Ala) c.1250A>C (p.Glu417Ala) n.927A>C c.369A>C n.780A>C c.1208A>C (p.Glu403Ala) | dbSNP |
| 12 | g.102840450T= | CA2059441633 | PAH | c.1265A= (p.Glu422=) c.1250A= (p.Glu417=) n.927A= c.369A= n.780A= c.1208A= (p.Glu403=) | |
| 12 | g.102840451C>A | CA386493019 | PAH | c.1264G>T (p.Glu422Ter) c.1249G>T (p.Glu417Ter) n.926G>T c.368G>T n.779G>T c.1207G>T (p.Glu403Ter) | |
| 12 | g.102840451C= | CA2059441640 | PAH | c.1264G= (p.Glu422=) c.1249G= (p.Glu417=) n.926G= c.368G= n.779G= c.1207G= (p.Glu403=) | |
| 12 | g.102840451C>G | CA386493020 | PAH | c.1264G>C (p.Glu422Gln) c.1249G>C (p.Glu417Gln) n.926G>C c.368G>C n.779G>C c.1207G>C (p.Glu403Gln) | |
| 12 | g.102840451C>T | CA229422 | PAH | c.1264G>A (p.Glu422Lys) c.1249G>A (p.Glu417Lys) n.926G>A c.368G>A n.779G>A c.1207G>A (p.Glu403Lys) | ClinVar dbSNP |
| 12 | g.102840452A>C | CA386493021 | PAH | c.1263T>G (p.Ile421Met) c.1248T>G (p.Ile416Met) n.925T>G c.367T>G n.778T>G c.1206T>G (p.Ile402Met) | |
| 12 | g.102840452A>G | CA481375357 | PAH | c.1263T>C (p.Ile421=) c.1248T>C (p.Ile416=) n.925T>C c.367T>C n.778T>C c.1206T>C (p.Ile402=) | |
| 12 | g.102840452A>T | CA481375358 | PAH | c.1263T>A (p.Ile421=) c.1248T>A (p.Ile416=) n.925T>A c.367T>A n.778T>A c.1206T>A (p.Ile402=) | |
| 12 | g.102840453A= | CA2059441646 | PAH | c.1262T= (p.Ile421=) c.1247T= (p.Ile416=) n.924T= c.366T= n.777T= c.1205T= (p.Ile402=) | |
| 12 | g.102840453A>C | CA16020986 | PAH | c.1262T>G (p.Ile421Ser) c.1247T>G (p.Ile416Ser) n.924T>G c.366T>G n.777T>G c.1205T>G (p.Ile402Ser) | ClinVar dbSNP |
| 12 | g.102840453A>G | CA229420 | PAH | c.1262T>C (p.Ile421Thr) c.1247T>C (p.Ile416Thr) n.924T>C c.366T>C n.777T>C c.1205T>C (p.Ile402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102840453A>T | CA386493022 | PAH | c.1262T>A (p.Ile421Asn) c.1247T>A (p.Ile416Asn) n.924T>A c.366T>A n.777T>A c.1205T>A (p.Ile402Asn) | |
| 12 | g.102840454T>A | CA386493023 | PAH | c.1261A>T (p.Ile421Phe) c.1246A>T (p.Ile416Phe) n.923A>T c.365A>T n.776A>T c.1204A>T (p.Ile402Phe) | |
| 12 | g.102840454T>C | CA386493024 | PAH | c.1261A>G (p.Ile421Val) c.1246A>G (p.Ile416Val) n.923A>G c.365A>G n.776A>G c.1204A>G (p.Ile402Val) | |
| 12 | g.102840454T>G | CA386493025 | PAH | c.1261A>C (p.Ile421Leu) c.1246A>C (p.Ile416Leu) n.923A>C c.365A>C n.776A>C c.1204A>C (p.Ile402Leu) | |
| 12 | g.102840455C>A | CA386493027 | PAH | c.1260G>T (p.Arg420Ser) c.1245G>T (p.Arg415Ser) n.922G>T c.364G>T n.775G>T c.1203G>T (p.Arg401Ser) | |
| 12 | g.102840455C>G | CA386493026 | PAH | c.1260G>C (p.Arg420Ser) c.1245G>C (p.Arg415Ser) n.922G>C c.364G>C n.775G>C c.1203G>C (p.Arg401Ser) | |
| 12 | g.102840455C>T | CA481375359 | PAH | c.1260G>A (p.Arg420=) c.1245G>A (p.Arg415=) n.922G>A c.364G>A n.775G>A c.1203G>A (p.Arg401=) | |
| 12 | g.102840456C>A | CA6748704 | PAH | c.1259G>T (p.Arg420Met) c.1244G>T (p.Arg415Met) n.921G>T c.363G>T n.774G>T c.1202G>T (p.Arg401Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840456C= | CA2059441654 | PAH | c.1259G= (p.Arg420=) c.1244G= (p.Arg415=) n.921G= c.363G= n.774G= c.1202G= (p.Arg401=) | |
| 12 | g.102840456C>G | CA242743437 | PAH | c.1259G>C (p.Arg420Thr) c.1244G>C (p.Arg415Thr) n.921G>C c.363G>C n.774G>C c.1202G>C (p.Arg401Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840456C>T | CA386493028 | PAH | c.1259G>A (p.Arg420Lys) c.1244G>A (p.Arg415Lys) n.921G>A c.363G>A n.774G>A c.1202G>A (p.Arg401Lys) | COSMIC |
| 12 | g.102840457T>A | CA386493029 | PAH | c.1258A>T (p.Arg420Trp) c.1243A>T (p.Arg415Trp) n.920A>T c.362A>T n.773A>T c.1201A>T (p.Arg401Trp) | |
| 12 | g.102840457T>C | CA386493030 | PAH | c.1258A>G (p.Arg420Gly) c.1243A>G (p.Arg415Gly) n.920A>G c.362A>G n.773A>G c.1201A>G (p.Arg401Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840457T>G | CA481375360 | PAH | c.1258A>C (p.Arg420=) c.1243A>C (p.Arg415=) n.920A>C c.362A>C n.773A>C c.1201A>C (p.Arg401=) | |
| 12 | g.102840457T= | CA2059441668 | PAH | c.1258A= (p.Arg420=) c.1243A= (p.Arg415=) n.920A= c.362A= n.773A= c.1201A= (p.Arg401=) | |
| 12 | g.102840458T>A | CA386493031 | PAH | c.1257A>T (p.Gln419His) c.1242A>T (p.Gln414His) n.919A>T c.361A>T n.772A>T c.1200A>T (p.Gln400His) | |
| 12 | g.102840458T>C | CA481375361 | PAH | c.1257A>G (p.Gln419=) c.1242A>G (p.Gln414=) n.919A>G c.361A>G n.772A>G c.1200A>G (p.Gln400=) | ClinVar dbSNP |
| 12 | g.102840458T>G | CA386493032 | PAH | c.1257A>C (p.Gln419His) c.1242A>C (p.Gln414His) n.919A>C c.361A>C n.772A>C c.1200A>C (p.Gln400His) | |
| 12 | g.102840459T>A | CA386493033 | PAH | c.1256A>T (p.Gln419Leu) c.1241A>T (p.Gln414Leu) n.918A>T c.360A>T n.771A>T c.1199A>T (p.Gln400Leu) | |
| 12 | g.102840459T>C | CA6748705 | PAH | c.1256A>G (p.Gln419Arg) c.1241A>G (p.Gln414Arg) n.918A>G c.360A>G n.771A>G c.1199A>G (p.Gln400Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840459T>G | CA16020985 | PAH | c.1256A>C (p.Gln419Pro) c.1241A>C (p.Gln414Pro) n.918A>C c.360A>C n.771A>C c.1199A>C (p.Gln400Pro) | |
| 12 | g.102840459T= | CA2059441678 | PAH | c.1256A= (p.Gln419=) c.1241A= (p.Gln414=) n.918A= c.360A= n.771A= c.1199A= (p.Gln400=) | |
| 12 | g.102840460G>A | CA386493034 | PAH | c.1255C>T (p.Gln419Ter) c.1240C>T (p.Gln414Ter) n.917C>T c.359C>T n.770C>T c.1198C>T (p.Gln400Ter) | gnomAD v4 |
| 12 | g.102840460G>C | CA386493035 | PAH | c.1255C>G (p.Gln419Glu) c.1240C>G (p.Gln414Glu) n.917C>G c.359C>G n.770C>G c.1198C>G (p.Gln400Glu) | |
| 12 | g.102840460G>T | CA386493036 | PAH | c.1255C>A (p.Gln419Lys) c.1240C>A (p.Gln414Lys) n.917C>A c.359C>A n.770C>A c.1198C>A (p.Gln400Lys) | gnomAD v3 gnomAD v4 |
| 12 | g.102840461G>A | CA6748706 | PAH | c.1254C>T (p.Thr418=) c.1239C>T (p.Thr413=) n.916C>T c.358C>T n.769C>T c.1197C>T (p.Thr399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102840461G>C | CA481375362 | PAH | c.1254C>G (p.Thr418=) c.1239C>G (p.Thr413=) n.916C>G c.358C>G n.769C>G c.1197C>G (p.Thr399=) | |
| 12 | g.102840461G= | CA2059441682 | PAH | c.1254C= (p.Thr418=) c.1239C= (p.Thr413=) n.916C= c.358C= n.769C= c.1197C= (p.Thr399=) | |
| 12 | g.102840461G>T | CA481375363 | PAH | c.1254C>A (p.Thr418=) c.1239C>A (p.Thr413=) n.916C>A c.358C>A n.769C>A c.1197C>A (p.Thr399=) | ClinVar dbSNP |
| 12 | g.102840462G>A | CA386493037 | PAH | c.1253C>T (p.Thr418Ile) c.1238C>T (p.Thr413Ile) n.915C>T c.357C>T n.768C>T c.1196C>T (p.Thr399Ile) | ClinVar dbSNP |
| 12 | g.102840462G>C | CA386493038 | PAH | c.1253C>G (p.Thr418Ser) c.1238C>G (p.Thr413Ser) n.915C>G c.357C>G n.768C>G c.1196C>G (p.Thr399Ser) | |
| 12 | g.102840462G= | CA2059441688 | PAH | c.1253C= (p.Thr418=) c.1238C= (p.Thr413=) n.915C= c.357C= n.768C= c.1196C= (p.Thr399=) | |
| 12 | g.102840462G>T | CA16020984 | PAH | c.1253C>A (p.Thr418Asn) c.1238C>A (p.Thr413Asn) n.915C>A c.357C>A n.768C>A c.1196C>A (p.Thr399Asn) | ClinVar |
| 12 | g.102840463T>A | CA386493039 | PAH | c.1252A>T (p.Thr418Ser) c.1237A>T (p.Thr413Ser) n.914A>T c.356A>T n.767A>T c.1195A>T (p.Thr399Ser) | |
| 12 | g.102840463T>C | CA386493040 | PAH | c.1252A>G (p.Thr418Ala) c.1237A>G (p.Thr413Ala) n.914A>G c.356A>G n.767A>G c.1195A>G (p.Thr399Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840463T>G | CA229418 | PAH | c.1252A>C (p.Thr418Pro) c.1237A>C (p.Thr413Pro) n.914A>C c.356A>C n.767A>C c.1195A>C (p.Thr399Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |