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.48904818G>A | CA412894138 | SLC35A2 | c.1091C>T (p.Pro364Leu) c.429C>T (p.Ala143=) c.501C>T (p.Ala167=) c.653C>T c.1175C>T (p.Pro392Leu) c.1130C>T (p.Pro377Leu) c.425-1353C>T c.908C>T (p.Pro303Leu) c.*985C>T (n.*985C>T) | dbSNP gnomAD v4 |
| X | g.48904818G>C | CA412894139 | SLC35A2 | c.1091C>G (p.Pro364Arg) c.429C>G (p.Ala143=) c.501C>G (p.Ala167=) c.653C>G c.1175C>G (p.Pro392Arg) c.1130C>G (p.Pro377Arg) c.425-1353C>G c.908C>G (p.Pro303Arg) c.*985C>G (n.*985C>G) | |
| X | g.48904818G= | CA2428428786 | SLC35A2 | c.1091C= (p.Pro364=) c.429C= (p.Ala143=) c.501C= (p.Ala167=) c.653C= c.1175C= (p.Pro392=) c.1130C= (p.Pro377=) c.425-1353C= c.908C= (p.Pro303=) c.*985C= (n.*985C=) | |
| X | g.48904818G>T | CA412894140 | SLC35A2 | c.1091C>A (p.Pro364His) c.429C>A (p.Ala143=) c.501C>A (p.Ala167=) c.653C>A c.1175C>A (p.Pro392His) c.1130C>A (p.Pro377His) c.425-1353C>A c.908C>A (p.Pro303His) c.*985C>A (n.*985C>A) | |
| X | g.48904819G>A | CA412894143 | SLC35A2 | c.1090C>T (p.Pro364Ser) c.428C>T (p.Ala143Val) c.500C>T (p.Ala167Val) c.652C>T c.1174C>T (p.Pro392Ser) c.1129C>T (p.Pro377Ser) c.425-1354C>T c.907C>T (p.Pro303Ser) c.*984C>T (n.*984C>T) | ClinVar gnomAD v4 |
| X | g.48904819G>C | CA412894141 | SLC35A2 | c.1090C>G (p.Pro364Ala) c.428C>G (p.Ala143Gly) c.500C>G (p.Ala167Gly) c.652C>G c.1174C>G (p.Pro392Ala) c.1129C>G (p.Pro377Ala) c.425-1354C>G c.907C>G (p.Pro303Ala) c.*984C>G (n.*984C>G) | |
| X | g.48904819G>T | CA412894142 | SLC35A2 | c.1090C>A (p.Pro364Thr) c.428C>A (p.Ala143Asp) c.500C>A (p.Ala167Asp) c.652C>A c.1174C>A (p.Pro392Thr) c.1129C>A (p.Pro377Thr) c.425-1354C>A c.907C>A (p.Pro303Thr) c.*984C>A (n.*984C>A) | |
| X | g.48904820C>A | CA412894144 | SLC35A2 | c.1089G>T (p.Gln363His) c.427G>T (p.Ala143Ser) c.499G>T (p.Ala167Ser) c.651G>T c.1173G>T (p.Gln391His) c.1128G>T (p.Gln376His) c.425-1355G>T c.906G>T (p.Gln302His) c.*983G>T (n.*983G>T) | |
| X | g.48904820C>G | CA412894145 | SLC35A2 | c.1089G>C (p.Gln363His) c.427G>C (p.Ala143Pro) c.499G>C (p.Ala167Pro) c.651G>C c.1173G>C (p.Gln391His) c.1128G>C (p.Gln376His) c.425-1355G>C c.906G>C (p.Gln302His) c.*983G>C (n.*983G>C) | |
| X | g.48904820C>T | CA412894146 | SLC35A2 | c.1089G>A (p.Gln363=) c.427G>A (p.Ala143Thr) c.499G>A (p.Ala167Thr) c.651G>A c.1173G>A (p.Gln391=) c.1128G>A (p.Gln376=) c.425-1355G>A c.906G>A (p.Gln302=) c.*983G>A (n.*983G>A) | |
| X | g.48904821T>A | CA412894147 | SLC35A2 | c.1088A>T (p.Gln363Leu) c.426A>T (p.Ala142=) c.498A>T (p.Ala166=) c.650A>T c.1172A>T (p.Gln391Leu) c.1127A>T (p.Gln376Leu) c.425-1356A>T c.905A>T (p.Gln302Leu) c.*982A>T (n.*982A>T) | |
| X | g.48904821T>C | CA412894148 | SLC35A2 | c.1088A>G (p.Gln363Arg) c.426A>G (p.Ala142=) c.498A>G (p.Ala166=) c.650A>G c.1172A>G (p.Gln391Arg) c.1127A>G (p.Gln376Arg) c.425-1356A>G c.905A>G (p.Gln302Arg) c.*982A>G (n.*982A>G) | |
| X | g.48904821T>G | CA412894149 | SLC35A2 | c.1088A>C (p.Gln363Pro) c.426A>C (p.Ala142=) c.498A>C (p.Ala166=) c.650A>C c.1172A>C (p.Gln391Pro) c.1127A>C (p.Gln376Pro) c.425-1356A>C c.905A>C (p.Gln302Pro) c.*982A>C (n.*982A>C) | |
| X | g.48904822G>A | CA412894150 | SLC35A2 | c.1087C>T (p.Gln363Ter) c.425C>T (p.Ala142Val) c.497C>T (p.Ala166Val) c.649C>T c.1171C>T (p.Gln391Ter) c.1126C>T (p.Gln376Ter) c.425-1357C>T c.904C>T (p.Gln302Ter) c.*981C>T (n.*981C>T) | |
| X | g.48904822G>C | CA412894152 | SLC35A2 | c.1087C>G (p.Gln363Glu) c.425C>G (p.Ala142Gly) c.497C>G (p.Ala166Gly) c.649C>G c.1171C>G (p.Gln391Glu) c.1126C>G (p.Gln376Glu) c.425-1357C>G c.904C>G (p.Gln302Glu) c.*981C>G (n.*981C>G) | |
| X | g.48904822G>T | CA412894151 | SLC35A2 | c.1087C>A (p.Gln363Lys) c.425C>A (p.Ala142Glu) c.497C>A (p.Ala166Glu) c.649C>A c.1171C>A (p.Gln391Lys) c.1126C>A (p.Gln376Lys) c.425-1357C>A c.904C>A (p.Gln302Lys) c.*981C>A (n.*981C>A) | |
| X | g.48904823C>A | CA412894153 | SLC35A2 | c.1086G>T (p.Gln362His) c.424G>T (p.Ala142Ser) c.496G>T (p.Ala166Ser) c.648G>T c.1170G>T (p.Gln390His) c.1125G>T (p.Gln375His) c.425-1358G>T c.903G>T (p.Gln301His) c.*980G>T (n.*980G>T) | |
| X | g.48904823C>G | CA412894154 | SLC35A2 | c.1086G>C (p.Gln362His) c.424G>C (p.Ala142Pro) c.496G>C (p.Ala166Pro) c.648G>C c.1170G>C (p.Gln390His) c.1125G>C (p.Gln375His) c.425-1358G>C c.903G>C (p.Gln301His) c.*980G>C (n.*980G>C) | |
| X | g.48904823C>T | CA412894155 | SLC35A2 | c.1086G>A (p.Gln362=) c.424G>A (p.Ala142Thr) c.496G>A (p.Ala166Thr) c.648G>A c.1170G>A (p.Gln390=) c.1125G>A (p.Gln375=) c.425-1358G>A c.903G>A (p.Gln301=) c.*980G>A (n.*980G>A) | |
| X | g.48904824T>A | CA412894156 | SLC35A2 | c.1085A>T (p.Gln362Leu) c.423A>T (p.Pro141=) c.495A>T (p.Pro165=) c.647A>T c.1169A>T (p.Gln390Leu) c.1124A>T (p.Gln375Leu) c.425-1359A>T c.902A>T (p.Gln301Leu) c.*979A>T (n.*979A>T) | |
| X | g.48904824T>C | CA412894157 | SLC35A2 | c.1085A>G (p.Gln362Arg) c.423A>G (p.Pro141=) c.495A>G (p.Pro165=) c.647A>G c.1169A>G (p.Gln390Arg) c.1124A>G (p.Gln375Arg) c.425-1359A>G c.902A>G (p.Gln301Arg) c.*979A>G (n.*979A>G) | |
| X | g.48904824T>G | CA412894158 | SLC35A2 | c.1085A>C (p.Gln362Pro) c.423A>C (p.Pro141=) c.495A>C (p.Pro165=) c.647A>C c.1169A>C (p.Gln390Pro) c.1124A>C (p.Gln375Pro) c.425-1359A>C c.902A>C (p.Gln301Pro) c.*979A>C (n.*979A>C) | |
| X | g.48904825G>A | CA412894159 | SLC35A2 | c.1084C>T (p.Gln362Ter) c.422C>T (p.Pro141Leu) c.494C>T (p.Pro165Leu) c.646C>T c.1168C>T (p.Gln390Ter) c.1123C>T (p.Gln375Ter) c.425-1360C>T c.901C>T (p.Gln301Ter) c.*978C>T (n.*978C>T) | |
| X | g.48904825G>C | CA412894160 | SLC35A2 | c.1084C>G (p.Gln362Glu) c.422C>G (p.Pro141Arg) c.494C>G (p.Pro165Arg) c.646C>G c.1168C>G (p.Gln390Glu) c.1123C>G (p.Gln375Glu) c.425-1360C>G c.901C>G (p.Gln301Glu) c.*978C>G (n.*978C>G) | |
| X | g.48904825G= | CA2428428787 | SLC35A2 | c.1084C= (p.Gln362=) c.422C= (p.Pro141=) c.494C= (p.Pro165=) c.646C= c.1168C= (p.Gln390=) c.1123C= (p.Gln375=) c.425-1360C= c.901C= (p.Gln301=) c.*978C= (n.*978C=) | |
| X | g.48904825G>T | CA412894161 | SLC35A2 | c.1084C>A (p.Gln362Lys) c.422C>A (p.Pro141Gln) c.494C>A (p.Pro165Gln) c.646C>A c.1168C>A (p.Gln390Lys) c.1123C>A (p.Gln375Lys) c.425-1360C>A c.901C>A (p.Gln301Lys) c.*978C>A (n.*978C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904826G>A | CA412894162 | SLC35A2 | c.1083C>T (p.His361=) c.421C>T (p.Pro141Ser) c.493C>T (p.Pro165Ser) c.645C>T c.1167C>T (p.His389=) c.1122C>T (p.His374=) c.425-1361C>T c.900C>T (p.His300=) c.*977C>T (n.*977C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904826G>C | CA412894163 | SLC35A2 | c.1083C>G (p.His361Gln) c.421C>G (p.Pro141Ala) c.493C>G (p.Pro165Ala) c.645C>G c.1167C>G (p.His389Gln) c.1122C>G (p.His374Gln) c.425-1361C>G c.900C>G (p.His300Gln) c.*977C>G (n.*977C>G) | |
| X | g.48904826G= | CA2428428788 | SLC35A2 | c.1083C= (p.His361=) c.421C= (p.Pro141=) c.493C= (p.Pro165=) c.645C= c.1167C= (p.His389=) c.1122C= (p.His374=) c.425-1361C= c.900C= (p.His300=) c.*977C= (n.*977C=) | |
| X | g.48904826G>T | CA412894164 | SLC35A2 | c.1083C>A (p.His361Gln) c.421C>A (p.Pro141Thr) c.493C>A (p.Pro165Thr) c.645C>A c.1167C>A (p.His389Gln) c.1122C>A (p.His374Gln) c.425-1361C>A c.900C>A (p.His300Gln) c.*977C>A (n.*977C>A) | |
| X | g.48904827T>A | CA412894167 | SLC35A2 | c.1082A>T (p.His361Leu) c.420A>T (p.Ser140=) c.492A>T (p.Ser164=) c.644A>T c.1166A>T (p.His389Leu) c.1121A>T (p.His374Leu) c.425-1362A>T c.899A>T (p.His300Leu) c.*976A>T (n.*976A>T) | |
| X | g.48904827T>C | CA412894165 | SLC35A2 | c.1082A>G (p.His361Arg) c.420A>G (p.Ser140=) c.492A>G (p.Ser164=) c.644A>G c.1166A>G (p.His389Arg) c.1121A>G (p.His374Arg) c.425-1362A>G c.899A>G (p.His300Arg) c.*976A>G (n.*976A>G) | |
| X | g.48904827T>G | CA412894166 | SLC35A2 | c.1082A>C (p.His361Pro) c.420A>C (p.Ser140=) c.492A>C (p.Ser164=) c.644A>C c.1166A>C (p.His389Pro) c.1121A>C (p.His374Pro) c.425-1362A>C c.899A>C (p.His300Pro) c.*976A>C (n.*976A>C) | |
| X | g.48904828G>A | CA412894168 | SLC35A2 | c.1081C>T (p.His361Tyr) c.419C>T (p.Ser140Leu) c.491C>T (p.Ser164Leu) c.643C>T c.1165C>T (p.His389Tyr) c.1120C>T (p.His374Tyr) c.425-1363C>T c.898C>T (p.His300Tyr) c.*975C>T (n.*975C>T) | |
| X | g.48904828G>C | CA412894169 | SLC35A2 | c.1081C>G (p.His361Asp) c.419C>G (p.Ser140Ter) c.491C>G (p.Ser164Ter) c.643C>G c.1165C>G (p.His389Asp) c.1120C>G (p.His374Asp) c.425-1363C>G c.898C>G (p.His300Asp) c.*975C>G (n.*975C>G) | |
| X | g.48904828G>T | CA412894170 | SLC35A2 | c.1081C>A (p.His361Asn) c.419C>A (p.Ser140Ter) c.491C>A (p.Ser164Ter) c.643C>A c.1165C>A (p.His389Asn) c.1120C>A (p.His374Asn) c.425-1363C>A c.898C>A (p.His300Asn) c.*975C>A (n.*975C>A) | |
| X | g.48904829A>C | CA412894171 | SLC35A2 | c.1080T>G (p.Val360=) c.418T>G (p.Ser140Ala) c.490T>G (p.Ser164Ala) c.642T>G c.1164T>G (p.Val388=) c.1119T>G (p.Val373=) c.425-1364T>G c.897T>G (p.Val299=) c.*974T>G (n.*974T>G) | |
| X | g.48904829A>G | CA412894172 | SLC35A2 | c.1080T>C (p.Val360=) c.418T>C (p.Ser140Pro) c.490T>C (p.Ser164Pro) c.642T>C c.1164T>C (p.Val388=) c.1119T>C (p.Val373=) c.425-1364T>C c.897T>C (p.Val299=) c.*974T>C (n.*974T>C) | |
| X | g.48904829A>T | CA412894173 | SLC35A2 | c.1080T>A (p.Val360=) c.418T>A (p.Ser140Thr) c.490T>A (p.Ser164Thr) c.642T>A c.1164T>A (p.Val388=) c.1119T>A (p.Val373=) c.425-1364T>A c.897T>A (p.Val299=) c.*974T>A (n.*974T>A) | |
| X | g.48904830A= | CA2428428789 | SLC35A2 | c.1079T= (p.Val360=) c.417T= (p.Arg139=) c.489T= (p.Arg163=) c.641T= c.1163T= (p.Val388=) c.1118T= (p.Val373=) c.425-1365T= c.896T= (p.Val299=) c.*973T= (n.*973T=) | |
| X | g.48904830A>C | CA412894176 | SLC35A2 | c.1079T>G (p.Val360Gly) c.417T>G (p.Arg139=) c.489T>G (p.Arg163=) c.641T>G c.1163T>G (p.Val388Gly) c.1118T>G (p.Val373Gly) c.425-1365T>G c.896T>G (p.Val299Gly) c.*973T>G (n.*973T>G) | |
| X | g.48904830A>G | CA412894175 | SLC35A2 | c.1079T>C (p.Val360Ala) c.417T>C (p.Arg139=) c.489T>C (p.Arg163=) c.641T>C c.1163T>C (p.Val388Ala) c.1118T>C (p.Val373Ala) c.425-1365T>C c.896T>C (p.Val299Ala) c.*973T>C (n.*973T>C) | dbSNP |
| X | g.48904830A>T | CA412894174 | SLC35A2 | c.1079T>A (p.Val360Asp) c.417T>A (p.Arg139=) c.489T>A (p.Arg163=) c.641T>A c.1163T>A (p.Val388Asp) c.1118T>A (p.Val373Asp) c.425-1365T>A c.896T>A (p.Val299Asp) c.*973T>A (n.*973T>A) | |
| X | g.48904831C>A | CA412894177 | SLC35A2 | c.1078G>T (p.Val360Phe) c.416G>T (p.Arg139Leu) c.488G>T (p.Arg163Leu) c.640G>T c.1162G>T (p.Val388Phe) c.1117G>T (p.Val373Phe) c.425-1366G>T c.895G>T (p.Val299Phe) c.*972G>T (n.*972G>T) | |
| X | g.48904831C= | CA2428428790 | SLC35A2 | c.1078G= (p.Val360=) c.416G= (p.Arg139=) c.488G= (p.Arg163=) c.640G= c.1162G= (p.Val388=) c.1117G= (p.Val373=) c.425-1366G= c.895G= (p.Val299=) c.*972G= (n.*972G=) | |
| X | g.48904831C>G | CA412894178 | SLC35A2 | c.1078G>C (p.Val360Leu) c.416G>C (p.Arg139Pro) c.488G>C (p.Arg163Pro) c.640G>C c.1162G>C (p.Val388Leu) c.1117G>C (p.Val373Leu) c.425-1366G>C c.895G>C (p.Val299Leu) c.*972G>C (n.*972G>C) | ClinVar |
| X | g.48904831C>T | CA10406060 | SLC35A2 | c.1078G>A (p.Val360Ile) c.416G>A (p.Arg139His) c.488G>A (p.Arg163His) c.640G>A c.1162G>A (p.Val388Ile) c.1117G>A (p.Val373Ile) c.425-1366G>A c.895G>A (p.Val299Ile) c.*972G>A (n.*972G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904832G>A | CA412894179 | SLC35A2 | c.1077C>T (p.Cys359=) c.415C>T (p.Arg139Cys) c.487C>T (p.Arg163Cys) c.639C>T c.1161C>T (p.Cys387=) c.1116C>T (p.Cys372=) c.425-1367C>T c.894C>T (p.Cys298=) c.*971C>T (n.*971C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904832G>C | CA412894180 | SLC35A2 | c.1077C>G (p.Cys359Trp) c.415C>G (p.Arg139Gly) c.487C>G (p.Arg163Gly) c.639C>G c.1161C>G (p.Cys387Trp) c.1116C>G (p.Cys372Trp) c.425-1367C>G c.894C>G (p.Cys298Trp) c.*971C>G (n.*971C>G) | |
| X | g.48904832G= | CA2428428791 | SLC35A2 | c.1077C= (p.Cys359=) c.415C= (p.Arg139=) c.487C= (p.Arg163=) c.639C= c.1161C= (p.Cys387=) c.1116C= (p.Cys372=) c.425-1367C= c.894C= (p.Cys298=) c.*971C= (n.*971C=) |