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 |
|---|---|---|---|---|---|
| 6 | g.73641832A= | CA1638223111 | SLC17A5 | c.384T= (p.Tyr128=) n.150T= c.333T= (p.Tyr111=) c.186T= (p.Tyr62=) c.153T= (p.Tyr51=) c.405T= (p.Tyr135=) | |
| 6 | g.73641832A>C | CA364718185 | SLC17A5 | c.384T>G (p.Tyr128Ter) n.150T>G c.333T>G (p.Tyr111Ter) c.186T>G (p.Tyr62Ter) c.153T>G (p.Tyr51Ter) c.405T>G (p.Tyr135Ter) | |
| 6 | g.73641832A>G | CA450912182 | SLC17A5 | c.384T>C (p.Tyr128=) n.150T>C c.333T>C (p.Tyr111=) c.186T>C (p.Tyr62=) c.153T>C (p.Tyr51=) c.405T>C (p.Tyr135=) | |
| 6 | g.73641832A>T | CA16041085 | SLC17A5 | c.384T>A (p.Tyr128Ter) n.150T>A c.333T>A (p.Tyr111Ter) c.186T>A (p.Tyr62Ter) c.153T>A (p.Tyr51Ter) c.405T>A (p.Tyr135Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73641833T>A | CA364718186 | SLC17A5 | c.383A>T (p.Tyr128Phe) n.149A>T c.332A>T (p.Tyr111Phe) c.185A>T (p.Tyr62Phe) c.152A>T (p.Tyr51Phe) c.404A>T (p.Tyr135Phe) | |
| 6 | g.73641833T>C | CA364718187 | SLC17A5 | c.383A>G (p.Tyr128Cys) n.149A>G c.332A>G (p.Tyr111Cys) c.185A>G (p.Tyr62Cys) c.152A>G (p.Tyr51Cys) c.404A>G (p.Tyr135Cys) | |
| 6 | g.73641833T>G | CA364718188 | SLC17A5 | c.383A>C (p.Tyr128Ser) n.149A>C c.332A>C (p.Tyr111Ser) c.185A>C (p.Tyr62Ser) c.152A>C (p.Tyr51Ser) c.404A>C (p.Tyr135Ser) | |
| 6 | g.73641834A>C | CA364718191 | SLC17A5 | c.382T>G (p.Tyr128Asp) n.148T>G c.331T>G (p.Tyr111Asp) c.184T>G (p.Tyr62Asp) c.151T>G (p.Tyr51Asp) c.403T>G (p.Tyr135Asp) | |
| 6 | g.73641834A>G | CA364718190 | SLC17A5 | c.382T>C (p.Tyr128His) n.148T>C c.331T>C (p.Tyr111His) c.184T>C (p.Tyr62His) c.151T>C (p.Tyr51His) c.403T>C (p.Tyr135His) | |
| 6 | g.73641834A>T | CA364718189 | SLC17A5 | c.382T>A (p.Tyr128Asn) n.148T>A c.331T>A (p.Tyr111Asn) c.184T>A (p.Tyr62Asn) c.151T>A (p.Tyr51Asn) c.403T>A (p.Tyr135Asn) | |
| 6 | g.73641835T>A | CA450912183 | SLC17A5 | c.381A>T (p.Gly127=) n.147A>T c.330A>T (p.Gly110=) c.183A>T (p.Gly61=) c.150A>T (p.Gly50=) c.402A>T (p.Gly134=) | gnomAD v4 |
| 6 | g.73641835T>C | CA450912184 | SLC17A5 | c.381A>G (p.Gly127=) n.147A>G c.330A>G (p.Gly110=) c.183A>G (p.Gly61=) c.150A>G (p.Gly50=) c.402A>G (p.Gly134=) | gnomAD v4 |
| 6 | g.73641835T>G | CA450912185 | SLC17A5 | c.381A>C (p.Gly127=) n.147A>C c.330A>C (p.Gly110=) c.183A>C (p.Gly61=) c.150A>C (p.Gly50=) c.402A>C (p.Gly134=) | |
| 6 | g.73641836C>A | CA364718192 | SLC17A5 | c.380G>T (p.Gly127Val) n.146G>T c.329G>T (p.Gly110Val) c.182G>T (p.Gly61Val) c.149G>T (p.Gly50Val) c.401G>T (p.Gly134Val) | |
| 6 | g.73641836C>G | CA364718193 | SLC17A5 | c.380G>C (p.Gly127Ala) n.146G>C c.329G>C (p.Gly110Ala) c.182G>C (p.Gly61Ala) c.149G>C (p.Gly50Ala) c.401G>C (p.Gly134Ala) | |
| 6 | g.73641836C>T | CA364718194 | SLC17A5 | c.380G>A (p.Gly127Glu) n.146G>A c.329G>A (p.Gly110Glu) c.182G>A (p.Gly61Glu) c.149G>A (p.Gly50Glu) c.401G>A (p.Gly134Glu) | |
| 6 | g.73641837C>A | CA364718195 | SLC17A5 | c.379G>T (p.Gly127Ter) n.145G>T c.328G>T (p.Gly110Ter) c.181G>T (p.Gly61Ter) c.148G>T (p.Gly50Ter) c.400G>T (p.Gly134Ter) | |
| 6 | g.73641837C>G | CA364718196 | SLC17A5 | c.379G>C (p.Gly127Arg) n.145G>C c.328G>C (p.Gly110Arg) c.181G>C (p.Gly61Arg) c.148G>C (p.Gly50Arg) c.400G>C (p.Gly134Arg) | |
| 6 | g.73641837C>T | CA364718197 | SLC17A5 | c.379G>A (p.Gly127Arg) n.145G>A c.328G>A (p.Gly110Arg) c.181G>A (p.Gly61Arg) c.148G>A (p.Gly50Arg) c.400G>A (p.Gly134Arg) | |
| 6 | g.73641838T>A | CA450912186 | SLC17A5 | c.378A>T (p.Gly126=) n.144A>T c.327A>T (p.Gly109=) c.180A>T (p.Gly60=) c.147A>T (p.Gly49=) c.399A>T (p.Gly133=) | |
| 6 | g.73641838T>C | CA450912187 | SLC17A5 | c.378A>G (p.Gly126=) n.144A>G c.327A>G (p.Gly109=) c.180A>G (p.Gly60=) c.147A>G (p.Gly49=) c.399A>G (p.Gly133=) | |
| 6 | g.73641838T>G | CA450912188 | SLC17A5 | c.378A>C (p.Gly126=) n.144A>C c.327A>C (p.Gly109=) c.180A>C (p.Gly60=) c.147A>C (p.Gly49=) c.399A>C (p.Gly133=) | |
| 6 | g.73641839C>A | CA364718198 | SLC17A5 | c.377G>T (p.Gly126Val) n.143G>T c.326G>T (p.Gly109Val) c.179G>T (p.Gly60Val) c.146G>T (p.Gly49Val) c.398G>T (p.Gly133Val) | |
| 6 | g.73641839C>G | CA364718199 | SLC17A5 | c.377G>C (p.Gly126Ala) n.143G>C c.326G>C (p.Gly109Ala) c.179G>C (p.Gly60Ala) c.146G>C (p.Gly49Ala) c.398G>C (p.Gly133Ala) | |
| 6 | g.73641839C>T | CA364718200 | SLC17A5 | c.377G>A (p.Gly126Glu) n.143G>A c.326G>A (p.Gly109Glu) c.179G>A (p.Gly60Glu) c.146G>A (p.Gly49Glu) c.398G>A (p.Gly133Glu) | |
| 6 | g.73641840C>A | CA364718201 | SLC17A5 | c.376G>T (p.Gly126Ter) n.142G>T c.325G>T (p.Gly109Ter) c.178G>T (p.Gly60Ter) c.145G>T (p.Gly49Ter) c.397G>T (p.Gly133Ter) | |
| 6 | g.73641840C>G | CA364718202 | SLC17A5 | c.376G>C (p.Gly126Arg) n.142G>C c.325G>C (p.Gly109Arg) c.178G>C (p.Gly60Arg) c.145G>C (p.Gly49Arg) c.397G>C (p.Gly133Arg) | |
| 6 | g.73641840C>T | CA364718203 | SLC17A5 | c.376G>A (p.Gly126Arg) n.142G>A c.325G>A (p.Gly109Arg) c.178G>A (p.Gly60Arg) c.145G>A (p.Gly49Arg) c.397G>A (p.Gly133Arg) | |
| 6 | g.73641841A>C | CA450912189 | SLC17A5 | c.375T>G (p.Pro125=) n.141T>G c.324T>G (p.Pro108=) c.177T>G (p.Pro59=) c.144T>G (p.Pro48=) c.396T>G (p.Pro132=) | |
| 6 | g.73641841A>G | CA450912190 | SLC17A5 | c.375T>C (p.Pro125=) n.141T>C c.324T>C (p.Pro108=) c.177T>C (p.Pro59=) c.144T>C (p.Pro48=) c.396T>C (p.Pro132=) | |
| 6 | g.73641841A>T | CA450912191 | SLC17A5 | c.375T>A (p.Pro125=) n.141T>A c.324T>A (p.Pro108=) c.177T>A (p.Pro59=) c.144T>A (p.Pro48=) c.396T>A (p.Pro132=) | |
| 6 | g.73641842G>A | CA364718206 | SLC17A5 | c.374C>T (p.Pro125Leu) n.140C>T c.323C>T (p.Pro108Leu) c.176C>T (p.Pro59Leu) c.143C>T (p.Pro48Leu) c.395C>T (p.Pro132Leu) | |
| 6 | g.73641842G>C | CA364718204 | SLC17A5 | c.374C>G (p.Pro125Arg) n.140C>G c.323C>G (p.Pro108Arg) c.176C>G (p.Pro59Arg) c.143C>G (p.Pro48Arg) c.395C>G (p.Pro132Arg) | |
| 6 | g.73641842G>T | CA364718205 | SLC17A5 | c.374C>A (p.Pro125His) n.140C>A c.323C>A (p.Pro108His) c.176C>A (p.Pro59His) c.143C>A (p.Pro48His) c.395C>A (p.Pro132His) | |
| 6 | g.73641843G>A | CA3890541 | SLC17A5 | c.373C>T (p.Pro125Ser) n.139C>T c.322C>T (p.Pro108Ser) c.175C>T (p.Pro59Ser) c.142C>T (p.Pro48Ser) c.394C>T (p.Pro132Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.73641843G>C | CA364718207 | SLC17A5 | c.373C>G (p.Pro125Ala) n.139C>G c.322C>G (p.Pro108Ala) c.175C>G (p.Pro59Ala) c.142C>G (p.Pro48Ala) c.394C>G (p.Pro132Ala) | |
| 6 | g.73641843G= | CA1638223119 | SLC17A5 | c.373C= (p.Pro125=) n.139C= c.322C= (p.Pro108=) c.175C= (p.Pro59=) c.142C= (p.Pro48=) c.394C= (p.Pro132=) | |
| 6 | g.73641843G>T | CA364718208 | SLC17A5 | c.373C>A (p.Pro125Thr) n.139C>A c.322C>A (p.Pro108Thr) c.175C>A (p.Pro59Thr) c.142C>A (p.Pro48Thr) c.394C>A (p.Pro132Thr) | |
| 6 | g.73641844A>C | CA364718209 | SLC17A5 | c.372T>G (p.Ile124Met) n.138T>G c.321T>G (p.Ile107Met) c.174T>G (p.Ile58Met) c.141T>G (p.Ile47Met) c.393T>G (p.Ile131Met) | |
| 6 | g.73641844A>G | CA450912192 | SLC17A5 | c.372T>C (p.Ile124=) n.138T>C c.321T>C (p.Ile107=) c.174T>C (p.Ile58=) c.141T>C (p.Ile47=) c.393T>C (p.Ile131=) | |
| 6 | g.73641844A>T | CA450912193 | SLC17A5 | c.372T>A (p.Ile124=) n.138T>A c.321T>A (p.Ile107=) c.174T>A (p.Ile58=) c.141T>A (p.Ile47=) c.393T>A (p.Ile131=) | |
| 6 | g.73641845A>C | CA364718210 | SLC17A5 | c.371T>G (p.Ile124Ser) n.137T>G c.320T>G (p.Ile107Ser) c.173T>G (p.Ile58Ser) c.140T>G (p.Ile47Ser) c.392T>G (p.Ile131Ser) | |
| 6 | g.73641845A>G | CA364718211 | SLC17A5 | c.371T>C (p.Ile124Thr) n.137T>C c.320T>C (p.Ile107Thr) c.173T>C (p.Ile58Thr) c.140T>C (p.Ile47Thr) c.392T>C (p.Ile131Thr) | |
| 6 | g.73641845A>T | CA364718212 | SLC17A5 | c.371T>A (p.Ile124Asn) n.137T>A c.320T>A (p.Ile107Asn) c.173T>A (p.Ile58Asn) c.140T>A (p.Ile47Asn) c.392T>A (p.Ile131Asn) | |
| 6 | g.73641846T>A | CA364718215 | SLC17A5 | c.370A>T (p.Ile124Phe) n.136A>T c.319A>T (p.Ile107Phe) c.172A>T (p.Ile58Phe) c.139A>T (p.Ile47Phe) c.391A>T (p.Ile131Phe) | |
| 6 | g.73641846T>C | CA364718213 | SLC17A5 | c.370A>G (p.Ile124Val) n.136A>G c.319A>G (p.Ile107Val) c.172A>G (p.Ile58Val) c.139A>G (p.Ile47Val) c.391A>G (p.Ile131Val) | |
| 6 | g.73641846T>G | CA364718214 | SLC17A5 | c.370A>C (p.Ile124Leu) n.136A>C c.319A>C (p.Ile107Leu) c.172A>C (p.Ile58Leu) c.139A>C (p.Ile47Leu) c.391A>C (p.Ile131Leu) | gnomAD v4 |
| 6 | g.73641847C>A | CA364718216 | SLC17A5 | c.369G>T (p.Gln123His) n.135G>T c.318G>T (p.Gln106His) c.171G>T (p.Gln57His) c.138G>T (p.Gln46His) c.390G>T (p.Gln130His) | |
| 6 | g.73641847C= | CA1638223122 | SLC17A5 | c.369G= (p.Gln123=) n.135G= c.318G= (p.Gln106=) c.171G= (p.Gln57=) c.138G= (p.Gln46=) c.390G= (p.Gln130=) | |
| 6 | g.73641847C>G | CA364718217 | SLC17A5 | c.369G>C (p.Gln123His) n.135G>C c.318G>C (p.Gln106His) c.171G>C (p.Gln57His) c.138G>C (p.Gln46His) c.390G>C (p.Gln130His) |