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.73641732C>A | CA364717955 | SLC17A5 | c.484G>T (p.Gly162Ter) n.250G>T c.433G>T (p.Gly145Ter) c.286G>T (p.Gly96Ter) c.253G>T (p.Gly85Ter) c.505G>T (p.Gly169Ter) | |
| 6 | g.73641732C>G | CA364717957 | SLC17A5 | c.484G>C (p.Gly162Arg) n.250G>C c.433G>C (p.Gly145Arg) c.286G>C (p.Gly96Arg) c.253G>C (p.Gly85Arg) c.505G>C (p.Gly169Arg) | |
| 6 | g.73641732C>T | CA364717959 | SLC17A5 | c.484G>A (p.Gly162Arg) n.250G>A c.433G>A (p.Gly145Arg) c.286G>A (p.Gly96Arg) c.253G>A (p.Gly85Arg) c.505G>A (p.Gly169Arg) | |
| 6 | g.73641733A>C | CA450912100 | SLC17A5 | c.483T>G (p.Val161=) n.249T>G c.432T>G (p.Val144=) c.285T>G (p.Val95=) c.252T>G (p.Val84=) c.504T>G (p.Val168=) | gnomAD v4 |
| 6 | g.73641733A>G | CA450912101 | SLC17A5 | c.483T>C (p.Val161=) n.249T>C c.432T>C (p.Val144=) c.285T>C (p.Val95=) c.252T>C (p.Val84=) c.504T>C (p.Val168=) | |
| 6 | g.73641733A>T | CA450912102 | SLC17A5 | c.483T>A (p.Val161=) n.249T>A c.432T>A (p.Val144=) c.285T>A (p.Val95=) c.252T>A (p.Val84=) c.504T>A (p.Val168=) | |
| 6 | g.73641734A= | CA1638222989 | SLC17A5 | c.482T= (p.Val161=) n.248T= c.431T= (p.Val144=) c.284T= (p.Val95=) c.251T= (p.Val84=) c.503T= (p.Val168=) | |
| 6 | g.73641734A>C | CA364717961 | SLC17A5 | c.482T>G (p.Val161Gly) n.248T>G c.431T>G (p.Val144Gly) c.284T>G (p.Val95Gly) c.251T>G (p.Val84Gly) c.503T>G (p.Val168Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641734A>G | CA364717962 | SLC17A5 | c.482T>C (p.Val161Ala) n.248T>C c.431T>C (p.Val144Ala) c.284T>C (p.Val95Ala) c.251T>C (p.Val84Ala) c.503T>C (p.Val168Ala) | |
| 6 | g.73641734A>T | CA364717964 | SLC17A5 | c.482T>A (p.Val161Asp) n.248T>A c.431T>A (p.Val144Asp) c.284T>A (p.Val95Asp) c.251T>A (p.Val84Asp) c.503T>A (p.Val168Asp) | |
| 6 | g.73641735C>A | CA364717969 | SLC17A5 | c.481G>T (p.Val161Phe) n.247G>T c.430G>T (p.Val144Phe) c.283G>T (p.Val95Phe) c.250G>T (p.Val84Phe) c.502G>T (p.Val168Phe) | |
| 6 | g.73641735C= | CA1638222993 | SLC17A5 | c.481G= (p.Val161=) n.247G= c.430G= (p.Val144=) c.283G= (p.Val95=) c.250G= (p.Val84=) c.502G= (p.Val168=) | |
| 6 | g.73641735C>G | CA364717967 | SLC17A5 | c.481G>C (p.Val161Leu) n.247G>C c.430G>C (p.Val144Leu) c.283G>C (p.Val95Leu) c.250G>C (p.Val84Leu) c.502G>C (p.Val168Leu) | gnomAD v4 |
| 6 | g.73641735C>T | CA3890529 | SLC17A5 | c.481G>A (p.Val161Ile) n.247G>A c.430G>A (p.Val144Ile) c.283G>A (p.Val95Ile) c.250G>A (p.Val84Ile) c.502G>A (p.Val168Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73641736T>A | CA450912103 | SLC17A5 | c.480A>T (p.Gly160=) n.246A>T c.429A>T (p.Gly143=) c.282A>T (p.Gly94=) c.249A>T (p.Gly83=) c.501A>T (p.Gly167=) | |
| 6 | g.73641736T>C | CA450912104 | SLC17A5 | c.480A>G (p.Gly160=) n.246A>G c.429A>G (p.Gly143=) c.282A>G (p.Gly94=) c.249A>G (p.Gly83=) c.501A>G (p.Gly167=) | gnomAD v4 |
| 6 | g.73641736T>G | CA450912105 | SLC17A5 | c.480A>C (p.Gly160=) n.246A>C c.429A>C (p.Gly143=) c.282A>C (p.Gly94=) c.249A>C (p.Gly83=) c.501A>C (p.Gly167=) | |
| 6 | g.73641737C>A | CA364717971 | SLC17A5 | c.479G>T (p.Gly160Val) n.245G>T c.428G>T (p.Gly143Val) c.281G>T (p.Gly94Val) c.248G>T (p.Gly83Val) c.500G>T (p.Gly167Val) | |
| 6 | g.73641737C>G | CA364717972 | SLC17A5 | c.479G>C (p.Gly160Ala) n.245G>C c.428G>C (p.Gly143Ala) c.281G>C (p.Gly94Ala) c.248G>C (p.Gly83Ala) c.500G>C (p.Gly167Ala) | |
| 6 | g.73641737C>T | CA364717973 | SLC17A5 | c.479G>A (p.Gly160Glu) n.245G>A c.428G>A (p.Gly143Glu) c.281G>A (p.Gly94Glu) c.248G>A (p.Gly83Glu) c.500G>A (p.Gly167Glu) | |
| 6 | g.73641738del | CA2580075793 | SLC17A5 | c.479del (p.Gly160GlufsTer11) n.245del c.428del (p.Gly143GlufsTer11) c.281del (p.Gly94GlufsTer11) c.248del (p.Gly83GlufsTer11) c.500del (p.Gly167GlufsTer11) | ClinVar |
| 6 | g.73641738C>A | CA364717974 | SLC17A5 | c.478G>T (p.Gly160Ter) n.244G>T c.427G>T (p.Gly143Ter) c.280G>T (p.Gly94Ter) c.247G>T (p.Gly83Ter) c.499G>T (p.Gly167Ter) | |
| 6 | g.73641738C>G | CA364717975 | SLC17A5 | c.478G>C (p.Gly160Arg) n.244G>C c.427G>C (p.Gly143Arg) c.280G>C (p.Gly94Arg) c.247G>C (p.Gly83Arg) c.499G>C (p.Gly167Arg) | |
| 6 | g.73641738C>T | CA364717976 | SLC17A5 | c.478G>A (p.Gly160Arg) n.244G>A c.427G>A (p.Gly143Arg) c.280G>A (p.Gly94Arg) c.247G>A (p.Gly83Arg) c.499G>A (p.Gly167Arg) | |
| 6 | g.73641739T>A | CA364717979 | SLC17A5 | c.477A>T (p.Leu159Phe) n.243A>T c.426A>T (p.Leu142Phe) c.279A>T (p.Leu93Phe) c.246A>T (p.Leu82Phe) c.498A>T (p.Leu166Phe) | |
| 6 | g.73641739T>C | CA450912106 | SLC17A5 | c.477A>G (p.Leu159=) n.243A>G c.426A>G (p.Leu142=) c.279A>G (p.Leu93=) c.246A>G (p.Leu82=) c.498A>G (p.Leu166=) | |
| 6 | g.73641739T>G | CA364717980 | SLC17A5 | c.477A>C (p.Leu159Phe) n.243A>C c.426A>C (p.Leu142Phe) c.279A>C (p.Leu93Phe) c.246A>C (p.Leu82Phe) c.498A>C (p.Leu166Phe) | |
| 6 | g.73641740A>C | CA364717984 | SLC17A5 | c.476T>G (p.Leu159Ter) n.242T>G c.425T>G (p.Leu142Ter) c.278T>G (p.Leu93Ter) c.245T>G (p.Leu82Ter) c.497T>G (p.Leu166Ter) | COSMIC |
| 6 | g.73641740A>G | CA364717985 | SLC17A5 | c.476T>C (p.Leu159Ser) n.242T>C c.425T>C (p.Leu142Ser) c.278T>C (p.Leu93Ser) c.245T>C (p.Leu82Ser) c.497T>C (p.Leu166Ser) | |
| 6 | g.73641740A>T | CA364717987 | SLC17A5 | c.476T>A (p.Leu159Ter) n.242T>A c.425T>A (p.Leu142Ter) c.278T>A (p.Leu93Ter) c.245T>A (p.Leu82Ter) c.497T>A (p.Leu166Ter) | |
| 6 | g.73641741A>C | CA364717990 | SLC17A5 | c.475T>G (p.Leu159Val) n.241T>G c.424T>G (p.Leu142Val) c.277T>G (p.Leu93Val) c.244T>G (p.Leu82Val) c.496T>G (p.Leu166Val) | |
| 6 | g.73641741A>G | CA450912107 | SLC17A5 | c.475T>C (p.Leu159=) n.241T>C c.424T>C (p.Leu142=) c.277T>C (p.Leu93=) c.244T>C (p.Leu82=) c.496T>C (p.Leu166=) | |
| 6 | g.73641741A>T | CA364717991 | SLC17A5 | c.475T>A (p.Leu159Ile) n.241T>A c.424T>A (p.Leu142Ile) c.277T>A (p.Leu93Ile) c.244T>A (p.Leu82Ile) c.496T>A (p.Leu166Ile) | |
| 6 | g.73641742A>C | CA364717993 | SLC17A5 | c.474T>G (p.Asp158Glu) n.240T>G c.423T>G (p.Asp141Glu) c.276T>G (p.Asp92Glu) c.243T>G (p.Asp81Glu) c.495T>G (p.Asp165Glu) | |
| 6 | g.73641742A>G | CA450912108 | SLC17A5 | c.474T>C (p.Asp158=) n.240T>C c.423T>C (p.Asp141=) c.276T>C (p.Asp92=) c.243T>C (p.Asp81=) c.495T>C (p.Asp165=) | |
| 6 | g.73641742A>T | CA364717995 | SLC17A5 | c.474T>A (p.Asp158Glu) n.240T>A c.423T>A (p.Asp141Glu) c.276T>A (p.Asp92Glu) c.243T>A (p.Asp81Glu) c.495T>A (p.Asp165Glu) | |
| 6 | g.73641743T>A | CA364717997 | SLC17A5 | c.473A>T (p.Asp158Val) n.239A>T c.422A>T (p.Asp141Val) c.275A>T (p.Asp92Val) c.242A>T (p.Asp81Val) c.494A>T (p.Asp165Val) | |
| 6 | g.73641743T>C | CA364717999 | SLC17A5 | c.473A>G (p.Asp158Gly) n.239A>G c.422A>G (p.Asp141Gly) c.275A>G (p.Asp92Gly) c.242A>G (p.Asp81Gly) c.494A>G (p.Asp165Gly) | |
| 6 | g.73641743T>G | CA364718001 | SLC17A5 | c.473A>C (p.Asp158Ala) n.239A>C c.422A>C (p.Asp141Ala) c.275A>C (p.Asp92Ala) c.242A>C (p.Asp81Ala) c.494A>C (p.Asp165Ala) | |
| 6 | g.73641744C>A | CA364718003 | SLC17A5 | c.472G>T (p.Asp158Tyr) n.238G>T c.421G>T (p.Asp141Tyr) c.274G>T (p.Asp92Tyr) c.241G>T (p.Asp81Tyr) c.493G>T (p.Asp165Tyr) | |
| 6 | g.73641744C= | CA1638222995 | SLC17A5 | c.472G= (p.Asp158=) n.238G= c.421G= (p.Asp141=) c.274G= (p.Asp92=) c.241G= (p.Asp81=) c.493G= (p.Asp165=) | |
| 6 | g.73641744C>G | CA364718005 | SLC17A5 | c.472G>C (p.Asp158His) n.238G>C c.421G>C (p.Asp141His) c.274G>C (p.Asp92His) c.241G>C (p.Asp81His) c.493G>C (p.Asp165His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73641744C>T | CA364718007 | SLC17A5 | c.472G>A (p.Asp158Asn) n.238G>A c.421G>A (p.Asp141Asn) c.274G>A (p.Asp92Asn) c.241G>A (p.Asp81Asn) c.493G>A (p.Asp165Asn) | |
| 6 | g.73641745T>A | CA450912109 | SLC17A5 | c.471A>T (p.Ala157=) n.237A>T c.420A>T (p.Ala140=) c.273A>T (p.Ala91=) c.240A>T (p.Ala80=) c.492A>T (p.Ala164=) | |
| 6 | g.73641745T>C | CA450912110 | SLC17A5 | c.471A>G (p.Ala157=) n.237A>G c.420A>G (p.Ala140=) c.273A>G (p.Ala91=) c.240A>G (p.Ala80=) c.492A>G (p.Ala164=) | |
| 6 | g.73641745T>G | CA450912111 | SLC17A5 | c.471A>C (p.Ala157=) n.237A>C c.420A>C (p.Ala140=) c.273A>C (p.Ala91=) c.240A>C (p.Ala80=) c.492A>C (p.Ala164=) | |
| 6 | g.73641746G>A | CA364718009 | SLC17A5 | c.470C>T (p.Ala157Val) n.236C>T c.419C>T (p.Ala140Val) c.272C>T (p.Ala91Val) c.239C>T (p.Ala80Val) c.491C>T (p.Ala164Val) | gnomAD v4 |
| 6 | g.73641746G>C | CA364718010 | SLC17A5 | c.470C>G (p.Ala157Gly) n.236C>G c.419C>G (p.Ala140Gly) c.272C>G (p.Ala91Gly) c.239C>G (p.Ala80Gly) c.491C>G (p.Ala164Gly) | |
| 6 | g.73641746G>T | CA364718011 | SLC17A5 | c.470C>A (p.Ala157Glu) n.236C>A c.419C>A (p.Ala140Glu) c.272C>A (p.Ala91Glu) c.239C>A (p.Ala80Glu) c.491C>A (p.Ala164Glu) | |
| 6 | g.73641747C>A | CA364718012 | SLC17A5 | c.469G>T (p.Ala157Ser) n.235G>T c.418G>T (p.Ala140Ser) c.271G>T (p.Ala91Ser) c.238G>T (p.Ala80Ser) c.490G>T (p.Ala164Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |