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 |
|---|---|---|---|---|---|
| 19 | g.10631502G>A | CA404019347 | SLC44A2 | c.469G>A (p.Asp157Asn) c.463G>A (p.Asp155Asn) c.246-3254G>A (n.246-3254G>A) n.378G>A c.310G>A (p.Asp104Asn) c.304G>A (p.Asp102Asn) c.-81G>A (n.-81G>A) c.*266G>A (n.*266G>A) | |
| 19 | g.10631502G>C | CA404019348 | SLC44A2 | c.469G>C (p.Asp157His) c.463G>C (p.Asp155His) c.246-3254G>C (n.246-3254G>C) n.378G>C c.310G>C (p.Asp104His) c.304G>C (p.Asp102His) c.-81G>C (n.-81G>C) c.*266G>C (n.*266G>C) | |
| 19 | g.10631502G= | CA2322525756 | SLC44A2 | c.469G= (p.Asp157=) c.463G= (p.Asp155=) c.246-3254G= (n.246-3254G=) n.378G= c.310G= (p.Asp104=) c.304G= (p.Asp102=) c.-81G= (n.-81G=) c.*266G= (n.*266G=) | |
| 19 | g.10631502G>T | CA305238627 | SLC44A2 | c.469G>T (p.Asp157Tyr) c.463G>T (p.Asp155Tyr) c.246-3254G>T (n.246-3254G>T) n.378G>T c.310G>T (p.Asp104Tyr) c.304G>T (p.Asp102Tyr) c.-81G>T (n.-81G>T) c.*266G>T (n.*266G>T) | dbSNP gnomAD v4 |
| 19 | g.10631503A>C | CA404019349 | SLC44A2 | c.470A>C (p.Asp157Ala) c.464A>C (p.Asp155Ala) c.246-3253A>C (n.246-3253A>C) n.379A>C c.311A>C (p.Asp104Ala) c.305A>C (p.Asp102Ala) c.-80A>C (n.-80A>C) c.*267A>C (n.*267A>C) | |
| 19 | g.10631503A>G | CA404019351 | SLC44A2 | c.470A>G (p.Asp157Gly) c.464A>G (p.Asp155Gly) c.246-3253A>G (n.246-3253A>G) n.379A>G c.311A>G (p.Asp104Gly) c.305A>G (p.Asp102Gly) c.-80A>G (n.-80A>G) c.*267A>G (n.*267A>G) | |
| 19 | g.10631503A>T | CA404019350 | SLC44A2 | c.470A>T (p.Asp157Val) c.464A>T (p.Asp155Val) c.246-3253A>T (n.246-3253A>T) n.379A>T c.311A>T (p.Asp104Val) c.305A>T (p.Asp102Val) c.-80A>T (n.-80A>T) c.*267A>T (n.*267A>T) | |
| 19 | g.10631504C>A | CA9198355 | SLC44A2 | c.471C>A (p.Asp157Glu) c.465C>A (p.Asp155Glu) c.246-3252C>A (n.246-3252C>A) n.380C>A c.312C>A (p.Asp104Glu) c.306C>A (p.Asp102Glu) c.-79C>A (n.-79C>A) c.*268C>A (n.*268C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10631504C= | CA2322525757 | SLC44A2 | c.471C= (p.Asp157=) c.465C= (p.Asp155=) c.246-3252C= (n.246-3252C=) n.380C= c.312C= (p.Asp104=) c.306C= (p.Asp102=) c.-79C= (n.-79C=) c.*268C= (n.*268C=) | |
| 19 | g.10631504C>G | CA404019352 | SLC44A2 | c.471C>G (p.Asp157Glu) c.465C>G (p.Asp155Glu) c.246-3252C>G (n.246-3252C>G) n.380C>G c.312C>G (p.Asp104Glu) c.306C>G (p.Asp102Glu) c.-79C>G (n.-79C>G) c.*268C>G (n.*268C>G) | |
| 19 | g.10631504C>T | CA505480863 | SLC44A2 | c.471C>T (p.Asp157=) c.465C>T (p.Asp155=) c.246-3252C>T (n.246-3252C>T) n.380C>T c.312C>T (p.Asp104=) c.306C>T (p.Asp102=) c.-79C>T (n.-79C>T) c.*268C>T (n.*268C>T) | gnomAD v4 |
| 19 | g.10631505T>A | CA404019353 | SLC44A2 | c.472T>A (p.Cys158Ser) c.466T>A (p.Cys156Ser) c.246-3251T>A (n.246-3251T>A) n.381T>A c.313T>A (p.Cys105Ser) c.307T>A (p.Cys103Ser) c.-78T>A (n.-78T>A) c.*269T>A (n.*269T>A) | |
| 19 | g.10631505T>C | CA404019354 | SLC44A2 | c.472T>C (p.Cys158Arg) c.466T>C (p.Cys156Arg) c.246-3251T>C (n.246-3251T>C) n.381T>C c.313T>C (p.Cys105Arg) c.307T>C (p.Cys103Arg) c.-78T>C (n.-78T>C) c.*269T>C (n.*269T>C) | |
| 19 | g.10631505T>G | CA404019355 | SLC44A2 | c.472T>G (p.Cys158Gly) c.466T>G (p.Cys156Gly) c.246-3251T>G (n.246-3251T>G) n.381T>G c.313T>G (p.Cys105Gly) c.307T>G (p.Cys103Gly) c.-78T>G (n.-78T>G) c.*269T>G (n.*269T>G) | |
| 19 | g.10631506G>A | CA404019356 | SLC44A2 | c.473G>A (p.Cys158Tyr) c.467G>A (p.Cys156Tyr) c.246-3250G>A (n.246-3250G>A) n.382G>A c.314G>A (p.Cys105Tyr) c.308G>A (p.Cys103Tyr) c.-77G>A (n.-77G>A) c.*270G>A (n.*270G>A) | |
| 19 | g.10631506G>C | CA404019357 | SLC44A2 | c.473G>C (p.Cys158Ser) c.467G>C (p.Cys156Ser) c.246-3250G>C (n.246-3250G>C) n.382G>C c.314G>C (p.Cys105Ser) c.308G>C (p.Cys103Ser) c.-77G>C (n.-77G>C) c.*270G>C (n.*270G>C) | |
| 19 | g.10631506G>T | CA404019358 | SLC44A2 | c.473G>T (p.Cys158Phe) c.467G>T (p.Cys156Phe) c.246-3250G>T (n.246-3250G>T) n.382G>T c.314G>T (p.Cys105Phe) c.308G>T (p.Cys103Phe) c.-77G>T (n.-77G>T) c.*270G>T (n.*270G>T) | |
| 19 | g.10631507C>A | CA404019359 | SLC44A2 | c.474C>A (p.Cys158Ter) c.468C>A (p.Cys156Ter) c.246-3249C>A (n.246-3249C>A) n.383C>A c.315C>A (p.Cys105Ter) c.309C>A (p.Cys103Ter) c.-76C>A (n.-76C>A) c.*271C>A (n.*271C>A) | |
| 19 | g.10631507C= | CA2322525758 | SLC44A2 | c.474C= (p.Cys158=) c.468C= (p.Cys156=) c.246-3249C= (n.246-3249C=) n.383C= c.315C= (p.Cys105=) c.309C= (p.Cys103=) c.-76C= (n.-76C=) c.*271C= (n.*271C=) | |
| 19 | g.10631507C>G | CA404019360 | SLC44A2 | c.474C>G (p.Cys158Trp) c.468C>G (p.Cys156Trp) c.246-3249C>G (n.246-3249C>G) n.383C>G c.315C>G (p.Cys105Trp) c.309C>G (p.Cys103Trp) c.-76C>G (n.-76C>G) c.*271C>G (n.*271C>G) | |
| 19 | g.10631507C>T | CA9198356 | SLC44A2 | c.474C>T (p.Cys158=) c.468C>T (p.Cys156=) c.246-3249C>T (n.246-3249C>T) n.383C>T c.315C>T (p.Cys105=) c.309C>T (p.Cys103=) c.-76C>T (n.-76C>T) c.*271C>T (n.*271C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.10631508C>A | CA404019361 | SLC44A2 | c.475C>A (p.Pro159Thr) c.469C>A (p.Pro157Thr) c.246-3248C>A (n.246-3248C>A) n.384C>A c.316C>A (p.Pro106Thr) c.310C>A (p.Pro104Thr) c.-75C>A (n.-75C>A) c.*272C>A (n.*272C>A) | gnomAD v4 |
| 19 | g.10631508C>G | CA404019362 | SLC44A2 | c.475C>G (p.Pro159Ala) c.469C>G (p.Pro157Ala) c.246-3248C>G (n.246-3248C>G) n.384C>G c.316C>G (p.Pro106Ala) c.310C>G (p.Pro104Ala) c.-75C>G (n.-75C>G) c.*272C>G (n.*272C>G) | |
| 19 | g.10631508C>T | CA404019363 | SLC44A2 | c.475C>T (p.Pro159Ser) c.469C>T (p.Pro157Ser) c.246-3248C>T (n.246-3248C>T) n.384C>T c.316C>T (p.Pro106Ser) c.310C>T (p.Pro104Ser) c.-75C>T (n.-75C>T) c.*272C>T (n.*272C>T) | gnomAD v4 |
| 19 | g.10631509C>A | CA404019364 | SLC44A2 | c.476C>A (p.Pro159His) c.470C>A (p.Pro157His) c.246-3247C>A (n.246-3247C>A) n.385C>A c.317C>A (p.Pro106His) c.311C>A (p.Pro104His) c.-74C>A (n.-74C>A) c.*273C>A (n.*273C>A) | |
| 19 | g.10631509C= | CA2322525759 | SLC44A2 | c.476C= (p.Pro159=) c.470C= (p.Pro157=) c.246-3247C= (n.246-3247C=) n.385C= c.317C= (p.Pro106=) c.311C= (p.Pro104=) c.-74C= (n.-74C=) c.*273C= (n.*273C=) | |
| 19 | g.10631509C>G | CA404019366 | SLC44A2 | c.476C>G (p.Pro159Arg) c.470C>G (p.Pro157Arg) c.246-3247C>G (n.246-3247C>G) n.385C>G c.317C>G (p.Pro106Arg) c.311C>G (p.Pro104Arg) c.-74C>G (n.-74C>G) c.*273C>G (n.*273C>G) | |
| 19 | g.10631509C>T | CA404019365 | SLC44A2 | c.476C>T (p.Pro159Leu) c.470C>T (p.Pro157Leu) c.246-3247C>T (n.246-3247C>T) n.385C>T c.317C>T (p.Pro106Leu) c.311C>T (p.Pro104Leu) c.-74C>T (n.-74C>T) c.*273C>T (n.*273C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.10631510T>A | CA505480864 | SLC44A2 | c.477T>A (p.Pro159=) c.471T>A (p.Pro157=) c.246-3246T>A (n.246-3246T>A) n.386T>A c.318T>A (p.Pro106=) c.312T>A (p.Pro104=) c.-73T>A (n.-73T>A) c.*274T>A (n.*274T>A) | |
| 19 | g.10631510T>C | CA505480865 | SLC44A2 | c.477T>C (p.Pro159=) c.471T>C (p.Pro157=) c.246-3246T>C (n.246-3246T>C) n.386T>C c.318T>C (p.Pro106=) c.312T>C (p.Pro104=) c.-73T>C (n.-73T>C) c.*274T>C (n.*274T>C) | |
| 19 | g.10631510T>G | CA505480866 | SLC44A2 | c.477T>G (p.Pro159=) c.471T>G (p.Pro157=) c.246-3246T>G (n.246-3246T>G) n.386T>G c.318T>G (p.Pro106=) c.312T>G (p.Pro104=) c.-73T>G (n.-73T>G) c.*274T>G (n.*274T>G) | |
| 19 | g.10631511G>A | CA404019367 | SLC44A2 | c.478G>A (p.Ala160Thr) c.472G>A (p.Ala158Thr) c.246-3245G>A (n.246-3245G>A) n.387G>A c.319G>A (p.Ala107Thr) c.313G>A (p.Ala105Thr) c.-72G>A (n.-72G>A) c.*275G>A (n.*275G>A) | |
| 19 | g.10631511G>C | CA404019368 | SLC44A2 | c.478G>C (p.Ala160Pro) c.472G>C (p.Ala158Pro) c.246-3245G>C (n.246-3245G>C) n.387G>C c.319G>C (p.Ala107Pro) c.313G>C (p.Ala105Pro) c.-72G>C (n.-72G>C) c.*275G>C (n.*275G>C) | |
| 19 | g.10631511G>T | CA404019369 | SLC44A2 | c.478G>T (p.Ala160Ser) c.472G>T (p.Ala158Ser) c.246-3245G>T (n.246-3245G>T) n.387G>T c.319G>T (p.Ala107Ser) c.313G>T (p.Ala105Ser) c.-72G>T (n.-72G>T) c.*275G>T (n.*275G>T) | |
| 19 | g.10631512C>A | CA404019370 | SLC44A2 | c.479C>A (p.Ala160Asp) c.473C>A (p.Ala158Asp) c.246-3244C>A (n.246-3244C>A) n.388C>A c.320C>A (p.Ala107Asp) c.314C>A (p.Ala105Asp) c.-71C>A (n.-71C>A) c.*276C>A (n.*276C>A) | |
| 19 | g.10631512C>G | CA404019371 | SLC44A2 | c.479C>G (p.Ala160Gly) c.473C>G (p.Ala158Gly) c.246-3244C>G (n.246-3244C>G) n.388C>G c.320C>G (p.Ala107Gly) c.314C>G (p.Ala105Gly) c.-71C>G (n.-71C>G) c.*276C>G (n.*276C>G) | |
| 19 | g.10631512C>T | CA404019372 | SLC44A2 | c.479C>T (p.Ala160Val) c.473C>T (p.Ala158Val) c.246-3244C>T (n.246-3244C>T) n.388C>T c.320C>T (p.Ala107Val) c.314C>T (p.Ala105Val) c.-71C>T (n.-71C>T) c.*276C>T (n.*276C>T) | gnomAD v4 |
| 19 | g.10631513T>A | CA505480867 | SLC44A2 | c.480T>A (p.Ala160=) c.474T>A (p.Ala158=) c.246-3243T>A (n.246-3243T>A) n.389T>A c.321T>A (p.Ala107=) c.315T>A (p.Ala105=) c.-70T>A (n.-70T>A) c.*277T>A (n.*277T>A) | |
| 19 | g.10631513T>C | CA505480868 | SLC44A2 | c.480T>C (p.Ala160=) c.474T>C (p.Ala158=) c.246-3243T>C (n.246-3243T>C) n.389T>C c.321T>C (p.Ala107=) c.315T>C (p.Ala105=) c.-70T>C (n.-70T>C) c.*277T>C (n.*277T>C) | |
| 19 | g.10631513T>G | CA505480869 | SLC44A2 | c.480T>G (p.Ala160=) c.474T>G (p.Ala158=) c.246-3243T>G (n.246-3243T>G) n.389T>G c.321T>G (p.Ala107=) c.315T>G (p.Ala105=) c.-70T>G (n.-70T>G) c.*277T>G (n.*277T>G) | |
| 19 | g.10631514G>A | CA404019373 | SLC44A2 | c.481G>A (p.Val161Ile) c.475G>A (p.Val159Ile) c.246-3242G>A (n.246-3242G>A) n.390G>A c.322G>A (p.Val108Ile) c.316G>A (p.Val106Ile) c.-69G>A (n.-69G>A) c.*278G>A (n.*278G>A) | |
| 19 | g.10631514G>C | CA404019374 | SLC44A2 | c.481G>C (p.Val161Leu) c.475G>C (p.Val159Leu) c.246-3242G>C (n.246-3242G>C) n.390G>C c.322G>C (p.Val108Leu) c.316G>C (p.Val106Leu) c.-69G>C (n.-69G>C) c.*278G>C (n.*278G>C) | |
| 19 | g.10631514G>T | CA404019375 | SLC44A2 | c.481G>T (p.Val161Phe) c.475G>T (p.Val159Phe) c.246-3242G>T (n.246-3242G>T) n.390G>T c.322G>T (p.Val108Phe) c.316G>T (p.Val106Phe) c.-69G>T (n.-69G>T) c.*278G>T (n.*278G>T) | |
| 19 | g.10631515T>A | CA404019377 | SLC44A2 | c.482T>A (p.Val161Asp) c.476T>A (p.Val159Asp) c.246-3241T>A (n.246-3241T>A) n.391T>A c.323T>A (p.Val108Asp) c.317T>A (p.Val106Asp) c.-68T>A (n.-68T>A) c.*279T>A (n.*279T>A) | |
| 19 | g.10631515T>C | CA404019378 | SLC44A2 | c.482T>C (p.Val161Ala) c.476T>C (p.Val159Ala) c.246-3241T>C (n.246-3241T>C) n.391T>C c.323T>C (p.Val108Ala) c.317T>C (p.Val106Ala) c.-68T>C (n.-68T>C) c.*279T>C (n.*279T>C) | |
| 19 | g.10631515T>G | CA404019376 | SLC44A2 | c.482T>G (p.Val161Gly) c.476T>G (p.Val159Gly) c.246-3241T>G (n.246-3241T>G) n.391T>G c.323T>G (p.Val108Gly) c.317T>G (p.Val106Gly) c.-68T>G (n.-68T>G) c.*279T>G (n.*279T>G) | |
| 19 | g.10631516C>A | CA505480870 | SLC44A2 | c.483C>A (p.Val161=) c.477C>A (p.Val159=) c.246-3240C>A (n.246-3240C>A) n.392C>A c.324C>A (p.Val108=) c.318C>A (p.Val106=) c.-67C>A (n.-67C>A) c.*280C>A (n.*280C>A) | |
| 19 | g.10631516C= | CA2322525760 | SLC44A2 | c.483C= (p.Val161=) c.477C= (p.Val159=) c.246-3240C= (n.246-3240C=) n.392C= c.324C= (p.Val108=) c.318C= (p.Val106=) c.-67C= (n.-67C=) c.*280C= (n.*280C=) | |
| 19 | g.10631516C>G | CA505480871 | SLC44A2 | c.483C>G (p.Val161=) c.477C>G (p.Val159=) c.246-3240C>G (n.246-3240C>G) n.392C>G c.324C>G (p.Val108=) c.318C>G (p.Val106=) c.-67C>G (n.-67C>G) c.*280C>G (n.*280C>G) | |
| 19 | g.10631516C>T | CA305238635 | SLC44A2 | c.483C>T (p.Val161=) c.477C>T (p.Val159=) c.246-3240C>T (n.246-3240C>T) n.392C>T c.324C>T (p.Val108=) c.318C>T (p.Val106=) c.-67C>T (n.-67C>T) c.*280C>T (n.*280C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |