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.73641710G>A | CA364717876 | SLC17A5 | c.506C>T (p.Ala169Val) n.272C>T c.455C>T (p.Ala152Val) c.308C>T (p.Ala103Val) c.275C>T (p.Ala92Val) c.527C>T (p.Ala176Val) | gnomAD v4 |
| 6 | g.73641710G>C | CA364717877 | SLC17A5 | c.506C>G (p.Ala169Gly) n.272C>G c.455C>G (p.Ala152Gly) c.308C>G (p.Ala103Gly) c.275C>G (p.Ala92Gly) c.527C>G (p.Ala176Gly) | |
| 6 | g.73641710G>T | CA364717879 | SLC17A5 | c.506C>A (p.Ala169Glu) n.272C>A c.455C>A (p.Ala152Glu) c.308C>A (p.Ala103Glu) c.275C>A (p.Ala92Glu) c.527C>A (p.Ala176Glu) | |
| 6 | g.73641711C>A | CA364717882 | SLC17A5 | c.505G>T (p.Ala169Ser) n.271G>T c.454G>T (p.Ala152Ser) c.307G>T (p.Ala103Ser) c.274G>T (p.Ala92Ser) c.526G>T (p.Ala176Ser) | gnomAD v4 |
| 6 | g.73641711C= | CA1638222958 | SLC17A5 | c.505G= (p.Ala169=) n.271G= c.454G= (p.Ala152=) c.307G= (p.Ala103=) c.274G= (p.Ala92=) c.526G= (p.Ala176=) | |
| 6 | g.73641711C>G | CA364717883 | SLC17A5 | c.505G>C (p.Ala169Pro) n.271G>C c.454G>C (p.Ala152Pro) c.307G>C (p.Ala103Pro) c.274G>C (p.Ala92Pro) c.526G>C (p.Ala176Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641711C>T | CA364717880 | SLC17A5 | c.505G>A (p.Ala169Thr) n.271G>A c.454G>A (p.Ala152Thr) c.307G>A (p.Ala103Thr) c.274G>A (p.Ala92Thr) c.526G>A (p.Ala176Thr) | |
| 6 | g.73641712T>A | CA364717885 | SLC17A5 | c.504A>T (p.Arg168Ser) n.270A>T c.453A>T (p.Arg151Ser) c.306A>T (p.Arg102Ser) c.273A>T (p.Arg91Ser) c.525A>T (p.Arg175Ser) | |
| 6 | g.73641712T>C | CA450912081 | SLC17A5 | c.504A>G (p.Arg168=) n.270A>G c.453A>G (p.Arg151=) c.306A>G (p.Arg102=) c.273A>G (p.Arg91=) c.525A>G (p.Arg175=) | |
| 6 | g.73641712T>G | CA364717887 | SLC17A5 | c.504A>C (p.Arg168Ser) n.270A>C c.453A>C (p.Arg151Ser) c.306A>C (p.Arg102Ser) c.273A>C (p.Arg91Ser) c.525A>C (p.Arg175Ser) | |
| 6 | g.73641713C>A | CA364717888 | SLC17A5 | c.503G>T (p.Arg168Ile) n.269G>T c.452G>T (p.Arg151Ile) c.305G>T (p.Arg102Ile) c.272G>T (p.Arg91Ile) c.524G>T (p.Arg175Ile) | |
| 6 | g.73641713C>G | CA364717890 | SLC17A5 | c.503G>C (p.Arg168Thr) n.269G>C c.452G>C (p.Arg151Thr) c.305G>C (p.Arg102Thr) c.272G>C (p.Arg91Thr) c.524G>C (p.Arg175Thr) | |
| 6 | g.73641713C>T | CA364717891 | SLC17A5 | c.503G>A (p.Arg168Lys) n.269G>A c.452G>A (p.Arg151Lys) c.305G>A (p.Arg102Lys) c.272G>A (p.Arg91Lys) c.524G>A (p.Arg175Lys) | |
| 6 | g.73641714T>A | CA364717892 | SLC17A5 | c.502A>T (p.Arg168Ter) n.268A>T c.451A>T (p.Arg151Ter) c.304A>T (p.Arg102Ter) c.271A>T (p.Arg91Ter) c.523A>T (p.Arg175Ter) | |
| 6 | g.73641714T>C | CA364717893 | SLC17A5 | c.502A>G (p.Arg168Gly) n.268A>G c.451A>G (p.Arg151Gly) c.304A>G (p.Arg102Gly) c.271A>G (p.Arg91Gly) c.523A>G (p.Arg175Gly) | gnomAD v4 |
| 6 | g.73641714T>G | CA450912082 | SLC17A5 | c.502A>C (p.Arg168=) n.268A>C c.451A>C (p.Arg151=) c.304A>C (p.Arg102=) c.271A>C (p.Arg91=) c.523A>C (p.Arg175=) | |
| 6 | g.73641715G>A | CA450912083 | SLC17A5 | c.501C>T (p.Leu167=) n.267C>T c.450C>T (p.Leu150=) c.303C>T (p.Leu101=) c.270C>T (p.Leu90=) c.522C>T (p.Leu174=) | |
| 6 | g.73641715G>C | CA450912084 | SLC17A5 | c.501C>G (p.Leu167=) n.267C>G c.450C>G (p.Leu150=) c.303C>G (p.Leu101=) c.270C>G (p.Leu90=) c.522C>G (p.Leu174=) | |
| 6 | g.73641715G>T | CA450912085 | SLC17A5 | c.501C>A (p.Leu167=) n.267C>A c.450C>A (p.Leu150=) c.303C>A (p.Leu101=) c.270C>A (p.Leu90=) c.522C>A (p.Leu174=) | |
| 6 | g.73641716A= | CA1638222966 | SLC17A5 | c.500T= (p.Leu167=) n.266T= c.449T= (p.Leu150=) c.302T= (p.Leu101=) c.269T= (p.Leu90=) c.521T= (p.Leu174=) | |
| 6 | g.73641716A>C | CA364717894 | SLC17A5 | c.500T>G (p.Leu167Arg) n.266T>G c.449T>G (p.Leu150Arg) c.302T>G (p.Leu101Arg) c.269T>G (p.Leu90Arg) c.521T>G (p.Leu174Arg) | |
| 6 | g.73641716A>G | CA267594 | SLC17A5 | c.500T>C (p.Leu167Pro) n.266T>C c.449T>C (p.Leu150Pro) c.302T>C (p.Leu101Pro) c.269T>C (p.Leu90Pro) c.521T>C (p.Leu174Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641716A>T | CA364717895 | SLC17A5 | c.500T>A (p.Leu167His) n.266T>A c.449T>A (p.Leu150His) c.302T>A (p.Leu101His) c.269T>A (p.Leu90His) c.521T>A (p.Leu174His) | |
| 6 | g.73641717G>A | CA364717896 | SLC17A5 | c.499C>T (p.Leu167Phe) n.265C>T c.448C>T (p.Leu150Phe) c.301C>T (p.Leu101Phe) c.268C>T (p.Leu90Phe) c.520C>T (p.Leu174Phe) | gnomAD v4 COSMIC |
| 6 | g.73641717G>C | CA364717899 | SLC17A5 | c.499C>G (p.Leu167Val) n.265C>G c.448C>G (p.Leu150Val) c.301C>G (p.Leu101Val) c.268C>G (p.Leu90Val) c.520C>G (p.Leu174Val) | |
| 6 | g.73641717G>T | CA364717901 | SLC17A5 | c.499C>A (p.Leu167Ile) n.265C>A c.448C>A (p.Leu150Ile) c.301C>A (p.Leu101Ile) c.268C>A (p.Leu90Ile) c.520C>A (p.Leu174Ile) | |
| 6 | g.73641718T>A | CA450912086 | SLC17A5 | c.498A>T (p.Val166=) n.264A>T c.447A>T (p.Val149=) c.300A>T (p.Val100=) c.267A>T (p.Val89=) c.519A>T (p.Val173=) | |
| 6 | g.73641718T>C | CA450912087 | SLC17A5 | c.498A>G (p.Val166=) n.264A>G c.447A>G (p.Val149=) c.300A>G (p.Val100=) c.267A>G (p.Val89=) c.519A>G (p.Val173=) | dbSNP gnomAD v4 |
| 6 | g.73641718T>G | CA450912088 | SLC17A5 | c.498A>C (p.Val166=) n.264A>C c.447A>C (p.Val149=) c.300A>C (p.Val100=) c.267A>C (p.Val89=) c.519A>C (p.Val173=) | gnomAD v4 |
| 6 | g.73641718T= | CA1638222974 | SLC17A5 | c.498A= (p.Val166=) n.264A= c.447A= (p.Val149=) c.300A= (p.Val100=) c.267A= (p.Val89=) c.519A= (p.Val173=) | |
| 6 | g.73641719A= | CA1638222976 | SLC17A5 | c.497T= (p.Val166=) n.263T= c.446T= (p.Val149=) c.299T= (p.Val100=) c.266T= (p.Val89=) c.518T= (p.Val173=) | |
| 6 | g.73641719A>C | CA364717907 | SLC17A5 | c.497T>G (p.Val166Gly) n.263T>G c.446T>G (p.Val149Gly) c.299T>G (p.Val100Gly) c.266T>G (p.Val89Gly) c.518T>G (p.Val173Gly) | |
| 6 | g.73641719A>G | CA364717905 | SLC17A5 | c.497T>C (p.Val166Ala) n.263T>C c.446T>C (p.Val149Ala) c.299T>C (p.Val100Ala) c.266T>C (p.Val89Ala) c.518T>C (p.Val173Ala) | dbSNP gnomAD v4 |
| 6 | g.73641719A>T | CA364717903 | SLC17A5 | c.497T>A (p.Val166Glu) n.263T>A c.446T>A (p.Val149Glu) c.299T>A (p.Val100Glu) c.266T>A (p.Val89Glu) c.518T>A (p.Val173Glu) | |
| 6 | g.73641720C>A | CA364717910 | SLC17A5 | c.496G>T (p.Val166Leu) n.262G>T c.445G>T (p.Val149Leu) c.298G>T (p.Val100Leu) c.265G>T (p.Val89Leu) c.517G>T (p.Val173Leu) | |
| 6 | g.73641720C>G | CA364717912 | SLC17A5 | c.496G>C (p.Val166Leu) n.262G>C c.445G>C (p.Val149Leu) c.298G>C (p.Val100Leu) c.265G>C (p.Val89Leu) c.517G>C (p.Val173Leu) | |
| 6 | g.73641720C>T | CA364717914 | SLC17A5 | c.496G>A (p.Val166Ile) n.262G>A c.445G>A (p.Val149Ile) c.298G>A (p.Val100Ile) c.265G>A (p.Val89Ile) c.517G>A (p.Val173Ile) | |
| 6 | g.73641721A>C | CA364717916 | SLC17A5 | c.495T>G (p.Ile165Met) n.261T>G c.444T>G (p.Ile148Met) c.297T>G (p.Ile99Met) c.264T>G (p.Ile88Met) c.516T>G (p.Ile172Met) | gnomAD v4 |
| 6 | g.73641721A>G | CA450912089 | SLC17A5 | c.495T>C (p.Ile165=) n.261T>C c.444T>C (p.Ile148=) c.297T>C (p.Ile99=) c.264T>C (p.Ile88=) c.516T>C (p.Ile172=) | |
| 6 | g.73641721A>T | CA450912090 | SLC17A5 | c.495T>A (p.Ile165=) n.261T>A c.444T>A (p.Ile148=) c.297T>A (p.Ile99=) c.264T>A (p.Ile88=) c.516T>A (p.Ile172=) | |
| 6 | g.73641722A= | CA1638222980 | SLC17A5 | c.494T= (p.Ile165=) n.260T= c.443T= (p.Ile148=) c.296T= (p.Ile99=) c.263T= (p.Ile88=) c.515T= (p.Ile172=) | |
| 6 | g.73641722A>C | CA364717918 | SLC17A5 | c.494T>G (p.Ile165Ser) n.260T>G c.443T>G (p.Ile148Ser) c.296T>G (p.Ile99Ser) c.263T>G (p.Ile88Ser) c.515T>G (p.Ile172Ser) | |
| 6 | g.73641722A>G | CA364717919 | SLC17A5 | c.494T>C (p.Ile165Thr) n.260T>C c.443T>C (p.Ile148Thr) c.296T>C (p.Ile99Thr) c.263T>C (p.Ile88Thr) c.515T>C (p.Ile172Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641722A>T | CA3890528 | SLC17A5 | c.494T>A (p.Ile165Asn) n.260T>A c.443T>A (p.Ile148Asn) c.296T>A (p.Ile99Asn) c.263T>A (p.Ile88Asn) c.515T>A (p.Ile172Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73641723T>A | CA364717921 | SLC17A5 | c.493A>T (p.Ile165Phe) n.259A>T c.442A>T (p.Ile148Phe) c.295A>T (p.Ile99Phe) c.262A>T (p.Ile88Phe) c.514A>T (p.Ile172Phe) | |
| 6 | g.73641723T>C | CA364717923 | SLC17A5 | c.493A>G (p.Ile165Val) n.259A>G c.442A>G (p.Ile148Val) c.295A>G (p.Ile99Val) c.262A>G (p.Ile88Val) c.514A>G (p.Ile172Val) | |
| 6 | g.73641723T>G | CA364717925 | SLC17A5 | c.493A>C (p.Ile165Leu) n.259A>C c.442A>C (p.Ile148Leu) c.295A>C (p.Ile99Leu) c.262A>C (p.Ile88Leu) c.514A>C (p.Ile172Leu) | |
| 6 | g.73641724G>A | CA450912091 | SLC17A5 | c.492C>T (p.Leu164=) n.258C>T c.441C>T (p.Leu147=) c.294C>T (p.Leu98=) c.261C>T (p.Leu87=) c.513C>T (p.Leu171=) | ClinVar dbSNP |
| 6 | g.73641724G>C | CA450912092 | SLC17A5 | c.492C>G (p.Leu164=) n.258C>G c.441C>G (p.Leu147=) c.294C>G (p.Leu98=) c.261C>G (p.Leu87=) c.513C>G (p.Leu171=) | |
| 6 | g.73641724G>T | CA450912093 | SLC17A5 | c.492C>A (p.Leu164=) n.258C>A c.441C>A (p.Leu147=) c.294C>A (p.Leu98=) c.261C>A (p.Leu87=) c.513C>A (p.Leu171=) |