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 |
|---|---|---|---|---|---|
| 17 | g.6695784G>A | CA8331558 | SLC13A5 | c.997C>T (p.Arg333Ter) c.946C>T (p.Arg316Ter) c.868C>T (p.Arg290Ter) n.106C>T n.2130C>T c.886C>T (p.Arg296Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6695784G>C | CA397743948 | SLC13A5 | c.997C>G (p.Arg333Gly) c.946C>G (p.Arg316Gly) c.868C>G (p.Arg290Gly) n.106C>G n.2130C>G c.886C>G (p.Arg296Gly) | |
| 17 | g.6695784G= | CA2245487567 | SLC13A5 | c.997C= (p.Arg333=) c.946C= (p.Arg316=) c.868C= (p.Arg290=) n.106C= n.2130C= c.886C= (p.Arg296=) | |
| 17 | g.6695784G>T | CA497596269 | SLC13A5 | c.997C>A (p.Arg333=) c.946C>A (p.Arg316=) c.868C>A (p.Arg290=) n.106C>A n.2130C>A c.886C>A (p.Arg296=) | gnomAD v4 |
| 17 | g.6695785G>A | CA497596270 | SLC13A5 | c.996C>T (p.Ser332=) c.945C>T (p.Ser315=) c.867C>T (p.Ser289=) n.105C>T n.2129C>T c.885C>T (p.Ser295=) | |
| 17 | g.6695785G>C | CA497596271 | SLC13A5 | c.996C>G (p.Ser332=) c.945C>G (p.Ser315=) c.867C>G (p.Ser289=) n.105C>G n.2129C>G c.885C>G (p.Ser295=) | |
| 17 | g.6695785G>T | CA497596272 | SLC13A5 | c.996C>A (p.Ser332=) c.945C>A (p.Ser315=) c.867C>A (p.Ser289=) n.105C>A n.2129C>A c.885C>A (p.Ser295=) | |
| 17 | g.6695786G>A | CA397743954 | SLC13A5 | c.995C>T (p.Ser332Phe) c.944C>T (p.Ser315Phe) c.866C>T (p.Ser289Phe) n.104C>T n.2128C>T c.884C>T (p.Ser295Phe) | gnomAD v4 |
| 17 | g.6695786G>C | CA397743958 | SLC13A5 | c.995C>G (p.Ser332Cys) c.944C>G (p.Ser315Cys) c.866C>G (p.Ser289Cys) n.104C>G n.2128C>G c.884C>G (p.Ser295Cys) | gnomAD v4 |
| 17 | g.6695786G>T | CA397743959 | SLC13A5 | c.995C>A (p.Ser332Tyr) c.944C>A (p.Ser315Tyr) c.866C>A (p.Ser289Tyr) n.104C>A n.2128C>A c.884C>A (p.Ser295Tyr) | |
| 17 | g.6695786_6695787delinsGA | CA2245487568 | SLC13A5 | c.994_995delinsTC (p.Ser332=) c.943_944delinsTC (p.Ser315=) c.865_866delinsTC (p.Ser289=) n.103_104delinsTC n.2127_2128delinsTC c.883_884delinsTC (p.Ser295=) | |
| 17 | g.6695787del | CA919783458 | SLC13A5 | c.994del (p.Ser332ProfsTer11) c.943del (p.Ser315ProfsTer11) c.865del (p.Ser289ProfsTer11) n.103del n.2127del c.883del (p.Ser295ProfsTer11) | dbSNP |
| 17 | g.6695787A>C | CA397743963 | SLC13A5 | c.994T>G (p.Ser332Ala) c.943T>G (p.Ser315Ala) c.865T>G (p.Ser289Ala) n.103T>G n.2127T>G c.883T>G (p.Ser295Ala) | |
| 17 | g.6695787A>G | CA397743965 | SLC13A5 | c.994T>C (p.Ser332Pro) c.943T>C (p.Ser315Pro) c.865T>C (p.Ser289Pro) n.103T>C n.2127T>C c.883T>C (p.Ser295Pro) | |
| 17 | g.6695787A>T | CA397743967 | SLC13A5 | c.994T>A (p.Ser332Thr) c.943T>A (p.Ser315Thr) c.865T>A (p.Ser289Thr) n.103T>A n.2127T>A c.883T>A (p.Ser295Thr) | |
| 17 | g.6695788G>A | CA497596273 | SLC13A5 | c.993C>T (p.Phe331=) c.942C>T (p.Phe314=) c.864C>T (p.Phe288=) n.102C>T n.2126C>T c.882C>T (p.Phe294=) | |
| 17 | g.6695788G>C | CA397743970 | SLC13A5 | c.993C>G (p.Phe331Leu) c.942C>G (p.Phe314Leu) c.864C>G (p.Phe288Leu) n.102C>G n.2126C>G c.882C>G (p.Phe294Leu) | |
| 17 | g.6695788G>T | CA397743977 | SLC13A5 | c.993C>A (p.Phe331Leu) c.942C>A (p.Phe314Leu) c.864C>A (p.Phe288Leu) n.102C>A n.2126C>A c.882C>A (p.Phe294Leu) | |
| 17 | g.6695788_6695789delinsGA | CA2245487569 | SLC13A5 | c.992_993delinsTC (p.Phe331=) c.941_942delinsTC (p.Phe314=) c.863_864delinsTC (p.Phe288=) n.101_102delinsTC n.2125_2126delinsTC c.881_882delinsTC (p.Phe294=) | |
| 17 | g.6695789A>C | CA397743992 | SLC13A5 | c.992T>G (p.Phe331Cys) c.941T>G (p.Phe314Cys) c.863T>G (p.Phe288Cys) n.101T>G n.2125T>G c.881T>G (p.Phe294Cys) | |
| 17 | g.6695789A>G | CA397743991 | SLC13A5 | c.992T>C (p.Phe331Ser) c.941T>C (p.Phe314Ser) c.863T>C (p.Phe288Ser) n.101T>C n.2125T>C c.881T>C (p.Phe294Ser) | |
| 17 | g.6695789A>T | CA397743990 | SLC13A5 | c.992T>A (p.Phe331Tyr) c.941T>A (p.Phe314Tyr) c.863T>A (p.Phe288Tyr) n.101T>A n.2125T>A c.881T>A (p.Phe294Tyr) | |
| 17 | g.6695790del | CA8331559 | SLC13A5 | c.992del (p.Phe331SerfsTer12) c.941del (p.Phe314SerfsTer12) c.863del (p.Phe288SerfsTer12) n.101del n.2125del c.881del (p.Phe294SerfsTer12) | dbSNP ExAC gnomAD v2 |
| 17 | g.6695790A= | CA2245487570 | SLC13A5 | c.991T= (p.Phe331=) c.940T= (p.Phe314=) c.862T= (p.Phe288=) n.100T= n.2124T= c.880T= (p.Phe294=) | |
| 17 | g.6695790A>C | CA397744021 | SLC13A5 | c.991T>G (p.Phe331Val) c.940T>G (p.Phe314Val) c.862T>G (p.Phe288Val) n.100T>G n.2124T>G c.880T>G (p.Phe294Val) | |
| 17 | g.6695790A>G | CA397744001 | SLC13A5 | c.991T>C (p.Phe331Leu) c.940T>C (p.Phe314Leu) c.862T>C (p.Phe288Leu) n.100T>C n.2124T>C c.880T>C (p.Phe294Leu) | |
| 17 | g.6695790A>T | CA8331560 | SLC13A5 | c.991T>A (p.Phe331Ile) c.940T>A (p.Phe314Ile) c.862T>A (p.Phe288Ile) n.100T>A n.2124T>A c.880T>A (p.Phe294Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6695792_6695794del | CA2733154966 | SLC13A5 | c.989_991del (p.Trp330del) c.938_940del (p.Trp313del) c.860_862del (p.Trp287del) n.98_100del n.2122_2124del c.878_880del (p.Trp293del) | dbSNP |
| 17 | g.6695791C>A | CA397744030 | SLC13A5 | c.990G>T (p.Trp330Cys) c.939G>T (p.Trp313Cys) c.861G>T (p.Trp287Cys) n.99G>T n.2123G>T c.879G>T (p.Trp293Cys) | |
| 17 | g.6695791C>G | CA397744036 | SLC13A5 | c.990G>C (p.Trp330Cys) c.939G>C (p.Trp313Cys) c.861G>C (p.Trp287Cys) n.99G>C n.2123G>C c.879G>C (p.Trp293Cys) | |
| 17 | g.6695791C>T | CA397744046 | SLC13A5 | c.990G>A (p.Trp330Ter) c.939G>A (p.Trp313Ter) c.861G>A (p.Trp287Ter) n.99G>A n.2123G>A c.879G>A (p.Trp293Ter) | |
| 17 | g.6695792C>A | CA397744049 | SLC13A5 | c.989G>T (p.Trp330Leu) c.938G>T (p.Trp313Leu) c.860G>T (p.Trp287Leu) n.98G>T n.2122G>T c.878G>T (p.Trp293Leu) | |
| 17 | g.6695792C>G | CA397744057 | SLC13A5 | c.989G>C (p.Trp330Ser) c.938G>C (p.Trp313Ser) c.860G>C (p.Trp287Ser) n.98G>C n.2122G>C c.878G>C (p.Trp293Ser) | |
| 17 | g.6695792C>T | CA397744060 | SLC13A5 | c.989G>A (p.Trp330Ter) c.938G>A (p.Trp313Ter) c.860G>A (p.Trp287Ter) n.98G>A n.2122G>A c.878G>A (p.Trp293Ter) | |
| 17 | g.6695793A>C | CA397744064 | SLC13A5 | c.988T>G (p.Trp330Gly) c.937T>G (p.Trp313Gly) c.859T>G (p.Trp287Gly) n.97T>G n.2121T>G c.877T>G (p.Trp293Gly) | |
| 17 | g.6695793A>G | CA397744080 | SLC13A5 | c.988T>C (p.Trp330Arg) c.937T>C (p.Trp313Arg) c.859T>C (p.Trp287Arg) n.97T>C n.2121T>C c.877T>C (p.Trp293Arg) | |
| 17 | g.6695793A>T | CA397744091 | SLC13A5 | c.988T>A (p.Trp330Arg) c.937T>A (p.Trp313Arg) c.859T>A (p.Trp287Arg) n.97T>A n.2121T>A c.877T>A (p.Trp293Arg) | |
| 17 | g.6695794C>A | CA497596274 | SLC13A5 | c.987G>T (p.Leu329=) c.936G>T (p.Leu312=) c.858G>T (p.Leu286=) n.96G>T n.2120G>T c.876G>T (p.Leu292=) | |
| 17 | g.6695794C= | CA2245487571 | SLC13A5 | c.987G= (p.Leu329=) c.936G= (p.Leu312=) c.858G= (p.Leu286=) n.96G= n.2120G= c.876G= (p.Leu292=) | |
| 17 | g.6695794C>G | CA497596275 | SLC13A5 | c.987G>C (p.Leu329=) c.936G>C (p.Leu312=) c.858G>C (p.Leu286=) n.96G>C n.2120G>C c.876G>C (p.Leu292=) | |
| 17 | g.6695794C>T | CA497596276 | SLC13A5 | c.987G>A (p.Leu329=) c.936G>A (p.Leu312=) c.858G>A (p.Leu286=) n.96G>A n.2120G>A c.876G>A (p.Leu292=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.6695795A>C | CA397744096 | SLC13A5 | c.986T>G (p.Leu329Arg) c.935T>G (p.Leu312Arg) c.857T>G (p.Leu286Arg) n.95T>G n.2119T>G c.875T>G (p.Leu292Arg) | |
| 17 | g.6695795A>G | CA397744097 | SLC13A5 | c.986T>C (p.Leu329Pro) c.935T>C (p.Leu312Pro) c.857T>C (p.Leu286Pro) n.95T>C n.2119T>C c.875T>C (p.Leu292Pro) | |
| 17 | g.6695795A>T | CA397744099 | SLC13A5 | c.986T>A (p.Leu329Gln) c.935T>A (p.Leu312Gln) c.857T>A (p.Leu286Gln) n.95T>A n.2119T>A c.875T>A (p.Leu292Gln) | |
| 17 | g.6695796G>A | CA497596277 | SLC13A5 | c.985C>T (p.Leu329=) c.934C>T (p.Leu312=) c.856C>T (p.Leu286=) n.94C>T n.2118C>T c.874C>T (p.Leu292=) | |
| 17 | g.6695796G>C | CA397744101 | SLC13A5 | c.985C>G (p.Leu329Val) c.934C>G (p.Leu312Val) c.856C>G (p.Leu286Val) n.94C>G n.2118C>G c.874C>G (p.Leu292Val) | |
| 17 | g.6695796G>T | CA397744103 | SLC13A5 | c.985C>A (p.Leu329Met) c.934C>A (p.Leu312Met) c.856C>A (p.Leu286Met) n.94C>A n.2118C>A c.874C>A (p.Leu292Met) | |
| 17 | g.6695797G>A | CA497596278 | SLC13A5 | c.984C>T (p.Ile328=) c.933C>T (p.Ile311=) c.855C>T (p.Ile285=) n.93C>T n.2117C>T c.873C>T (p.Ile291=) | gnomAD v4 COSMIC |
| 17 | g.6695797G>C | CA397744105 | SLC13A5 | c.984C>G (p.Ile328Met) c.933C>G (p.Ile311Met) c.855C>G (p.Ile285Met) n.93C>G n.2117C>G c.873C>G (p.Ile291Met) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6695797G= | CA2245487572 | SLC13A5 | c.984C= (p.Ile328=) c.933C= (p.Ile311=) c.855C= (p.Ile285=) n.93C= n.2117C= c.873C= (p.Ile291=) |