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 |
|---|---|---|---|---|---|
| 6 | g.73644415_73644418delinsTATG | CA1638225456 | SLC17A5 | c.280_283delinsCATA (p.His94=) n.46_49delinsCATA c.229_232delinsCATA (p.His77=) c.82_85delinsCATA (p.His28=) c.61-2494_61-2491delinsCATA (n.61-2494_61-2491delinsCATA) c.301_304delinsCATA (p.His101=) | |
| 6 | g.73644420_73644422del | CA3890574 | SLC17A5 | c.280_282del (p.His94del) n.46_48del c.229_231del (p.His77del) c.82_84del (p.His28del) c.61-2494_61-2492del (n.61-2494_61-2492del) c.301_303del (p.His101del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644418G>A | CA364718590 | SLC17A5 | c.280C>T (p.His94Tyr) n.46C>T c.229C>T (p.His77Tyr) c.82C>T (p.His28Tyr) c.61-2494C>T (n.61-2494C>T) c.301C>T (p.His101Tyr) | gnomAD v4 |
| 6 | g.73644418G>C | CA364718585 | SLC17A5 | c.280C>G (p.His94Asp) n.46C>G c.229C>G (p.His77Asp) c.82C>G (p.His28Asp) c.61-2494C>G (n.61-2494C>G) c.301C>G (p.His101Asp) | |
| 6 | g.73644418G>T | CA364718587 | SLC17A5 | c.280C>A (p.His94Asn) n.46C>A c.229C>A (p.His77Asn) c.82C>A (p.His28Asn) c.61-2494C>A (n.61-2494C>A) c.301C>A (p.His101Asn) | |
| 6 | g.73644419A>C | CA364718593 | SLC17A5 | c.279T>G (p.His93Gln) n.45T>G c.228T>G (p.His76Gln) c.81T>G (p.His27Gln) c.61-2495T>G (n.61-2495T>G) c.300T>G (p.His100Gln) | |
| 6 | g.73644419A>G | CA450912333 | SLC17A5 | c.279T>C (p.His93=) n.45T>C c.228T>C (p.His76=) c.81T>C (p.His27=) c.61-2495T>C (n.61-2495T>C) c.300T>C (p.His100=) | |
| 6 | g.73644419A>T | CA364718595 | SLC17A5 | c.279T>A (p.His93Gln) n.45T>A c.228T>A (p.His76Gln) c.81T>A (p.His27Gln) c.61-2495T>A (n.61-2495T>A) c.300T>A (p.His100Gln) | |
| 6 | g.73644420T>A | CA364718598 | SLC17A5 | c.278A>T (p.His93Leu) n.44A>T c.227A>T (p.His76Leu) c.80A>T (p.His27Leu) c.61-2496A>T (n.61-2496A>T) c.299A>T (p.His100Leu) | |
| 6 | g.73644420T>C | CA3890575 | SLC17A5 | c.278A>G (p.His93Arg) n.44A>G c.227A>G (p.His76Arg) c.80A>G (p.His27Arg) c.61-2496A>G (n.61-2496A>G) c.299A>G (p.His100Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644420T>G | CA364718606 | SLC17A5 | c.278A>C (p.His93Pro) n.44A>C c.227A>C (p.His76Pro) c.80A>C (p.His27Pro) c.61-2496A>C (n.61-2496A>C) c.299A>C (p.His100Pro) | |
| 6 | g.73644420T= | CA1638225465 | SLC17A5 | c.278A= (p.His93=) n.44A= c.227A= (p.His76=) c.80A= (p.His27=) c.61-2496A= (n.61-2496A=) c.299A= (p.His100=) | |
| 6 | g.73644421G>A | CA364718608 | SLC17A5 | c.277C>T (p.His93Tyr) n.43C>T c.226C>T (p.His76Tyr) c.79C>T (p.His27Tyr) c.61-2497C>T (n.61-2497C>T) c.298C>T (p.His100Tyr) | |
| 6 | g.73644421G>C | CA364718613 | SLC17A5 | c.277C>G (p.His93Asp) n.43C>G c.226C>G (p.His76Asp) c.79C>G (p.His27Asp) c.61-2497C>G (n.61-2497C>G) c.298C>G (p.His100Asp) | |
| 6 | g.73644421G>T | CA364718610 | SLC17A5 | c.277C>A (p.His93Asn) n.43C>A c.226C>A (p.His76Asn) c.79C>A (p.His27Asn) c.61-2497C>A (n.61-2497C>A) c.298C>A (p.His100Asn) | gnomAD v4 |
| 6 | g.73644421dup | CA2679405061 | SLC17A5 | c.277dup (p.His93ProfsTer3) n.43dup c.226dup (p.His76ProfsTer3) c.79dup (p.His27ProfsTer3) c.61-2497dup (n.61-2497dup) c.298dup (p.His100ProfsTer3) | gnomAD v4 |
| 6 | g.73644422A>C | CA450912334 | SLC17A5 | c.276T>G (p.Val92=) n.42T>G c.225T>G (p.Val75=) c.78T>G (p.Val26=) c.61-2498T>G (n.61-2498T>G) c.297T>G (p.Val99=) | |
| 6 | g.73644422A>G | CA450912335 | SLC17A5 | c.276T>C (p.Val92=) n.42T>C c.225T>C (p.Val75=) c.78T>C (p.Val26=) c.61-2498T>C (n.61-2498T>C) c.297T>C (p.Val99=) | |
| 6 | g.73644422A>T | CA450912336 | SLC17A5 | c.276T>A (p.Val92=) n.42T>A c.225T>A (p.Val75=) c.78T>A (p.Val26=) c.61-2498T>A (n.61-2498T>A) c.297T>A (p.Val99=) | |
| 6 | g.73644423A>C | CA364718616 | SLC17A5 | c.275T>G (p.Val92Gly) n.41T>G c.224T>G (p.Val75Gly) c.77T>G (p.Val26Gly) c.61-2499T>G (n.61-2499T>G) c.296T>G (p.Val99Gly) | |
| 6 | g.73644423A>G | CA364718617 | SLC17A5 | c.275T>C (p.Val92Ala) n.41T>C c.224T>C (p.Val75Ala) c.77T>C (p.Val26Ala) c.61-2499T>C (n.61-2499T>C) c.296T>C (p.Val99Ala) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73644423A>T | CA364718618 | SLC17A5 | c.275T>A (p.Val92Asp) n.41T>A c.224T>A (p.Val75Asp) c.77T>A (p.Val26Asp) c.61-2499T>A (n.61-2499T>A) c.296T>A (p.Val99Asp) | |
| 6 | g.73644424C>A | CA364718619 | SLC17A5 | c.274G>T (p.Val92Phe) n.40G>T c.223G>T (p.Val75Phe) c.76G>T (p.Val26Phe) c.61-2500G>T (n.61-2500G>T) c.295G>T (p.Val99Phe) | |
| 6 | g.73644424C= | CA1638225468 | SLC17A5 | c.274G= (p.Val92=) n.40G= c.223G= (p.Val75=) c.76G= (p.Val26=) c.61-2500G= (n.61-2500G=) c.295G= (p.Val99=) | |
| 6 | g.73644424C>G | CA364718620 | SLC17A5 | c.274G>C (p.Val92Leu) n.40G>C c.223G>C (p.Val75Leu) c.76G>C (p.Val26Leu) c.61-2500G>C (n.61-2500G>C) c.295G>C (p.Val99Leu) | dbSNP |
| 6 | g.73644424C>T | CA364718622 | SLC17A5 | c.274G>A (p.Val92Ile) n.40G>A c.223G>A (p.Val75Ile) c.76G>A (p.Val26Ile) c.61-2500G>A (n.61-2500G>A) c.295G>A (p.Val99Ile) | gnomAD v4 |
| 6 | g.73644425T>A | CA364718626 | SLC17A5 | c.273A>T (p.Lys91Asn) n.39A>T c.222A>T (p.Lys74Asn) c.75A>T (p.Lys25Asn) c.61-2501A>T (n.61-2501A>T) c.294A>T (p.Lys98Asn) | |
| 6 | g.73644425T>C | CA450912337 | SLC17A5 | c.273A>G (p.Lys91=) n.39A>G c.222A>G (p.Lys74=) c.75A>G (p.Lys25=) c.61-2501A>G (n.61-2501A>G) c.294A>G (p.Lys98=) | |
| 6 | g.73644425T>G | CA364718628 | SLC17A5 | c.273A>C (p.Lys91Asn) n.39A>C c.222A>C (p.Lys74Asn) c.75A>C (p.Lys25Asn) c.61-2501A>C (n.61-2501A>C) c.294A>C (p.Lys98Asn) | |
| 6 | g.73644428del | CA2679405062 | SLC17A5 | c.273del (p.Val92PhefsTer?) n.39del c.222del (p.Val75PhefsTer?) c.75del (p.Val26PhefsTer?) c.61-2501del (n.61-2501del) c.294del (p.Val99PhefsTer?) | gnomAD v4 |
| 6 | g.73644426T>A | CA364718632 | SLC17A5 | c.272A>T (p.Lys91Ile) n.38A>T c.221A>T (p.Lys74Ile) c.74A>T (p.Lys25Ile) c.61-2502A>T (n.61-2502A>T) c.293A>T (p.Lys98Ile) | |
| 6 | g.73644426T>C | CA364718635 | SLC17A5 | c.272A>G (p.Lys91Arg) n.38A>G c.221A>G (p.Lys74Arg) c.74A>G (p.Lys25Arg) c.61-2502A>G (n.61-2502A>G) c.293A>G (p.Lys98Arg) | |
| 6 | g.73644426T>G | CA364718638 | SLC17A5 | c.272A>C (p.Lys91Thr) n.38A>C c.221A>C (p.Lys74Thr) c.74A>C (p.Lys25Thr) c.61-2502A>C (n.61-2502A>C) c.293A>C (p.Lys98Thr) | COSMIC |
| 6 | g.73644427T>A | CA364718641 | SLC17A5 | c.271A>T (p.Lys91Ter) n.37A>T c.220A>T (p.Lys74Ter) c.73A>T (p.Lys25Ter) c.61-2503A>T (n.61-2503A>T) c.292A>T (p.Lys98Ter) | |
| 6 | g.73644427T>C | CA3890576 | SLC17A5 | c.271A>G (p.Lys91Glu) n.37A>G c.220A>G (p.Lys74Glu) c.73A>G (p.Lys25Glu) c.61-2503A>G (n.61-2503A>G) c.292A>G (p.Lys98Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73644427T>G | CA364718643 | SLC17A5 | c.271A>C (p.Lys91Gln) n.37A>C c.220A>C (p.Lys74Gln) c.73A>C (p.Lys25Gln) c.61-2503A>C (n.61-2503A>C) c.292A>C (p.Lys98Gln) | |
| 6 | g.73644427T= | CA1638225469 | SLC17A5 | c.271A= (p.Lys91=) n.37A= c.220A= (p.Lys74=) c.73A= (p.Lys25=) c.61-2503A= (n.61-2503A=) c.292A= (p.Lys98=) | |
| 6 | g.73644428T>A | CA450912338 | SLC17A5 | c.270A>T (p.Ile90=) n.36A>T c.219A>T (p.Ile73=) c.72A>T (p.Ile24=) c.61-2504A>T (n.61-2504A>T) c.291A>T (p.Ile97=) | |
| 6 | g.73644428T>C | CA364718646 | SLC17A5 | c.270A>G (p.Ile90Met) n.36A>G c.219A>G (p.Ile73Met) c.72A>G (p.Ile24Met) c.61-2504A>G (n.61-2504A>G) c.291A>G (p.Ile97Met) | |
| 6 | g.73644428T>G | CA450912339 | SLC17A5 | c.270A>C (p.Ile90=) n.36A>C c.219A>C (p.Ile73=) c.72A>C (p.Ile24=) c.61-2504A>C (n.61-2504A>C) c.291A>C (p.Ile97=) | |
| 6 | g.73644429A= | CA1638225472 | SLC17A5 | c.269T= (p.Ile90=) n.35T= c.218T= (p.Ile73=) c.71T= (p.Ile24=) c.61-2505T= (n.61-2505T=) c.290T= (p.Ile97=) | |
| 6 | g.73644429A>C | CA364718649 | SLC17A5 | c.269T>G (p.Ile90Arg) n.35T>G c.218T>G (p.Ile73Arg) c.71T>G (p.Ile24Arg) c.61-2505T>G (n.61-2505T>G) c.290T>G (p.Ile97Arg) | dbSNP |
| 6 | g.73644429A>G | CA364718653 | SLC17A5 | c.269T>C (p.Ile90Thr) n.35T>C c.218T>C (p.Ile73Thr) c.71T>C (p.Ile24Thr) c.61-2505T>C (n.61-2505T>C) c.290T>C (p.Ile97Thr) | |
| 6 | g.73644429A>T | CA364718655 | SLC17A5 | c.269T>A (p.Ile90Lys) n.35T>A c.218T>A (p.Ile73Lys) c.71T>A (p.Ile24Lys) c.61-2505T>A (n.61-2505T>A) c.290T>A (p.Ile97Lys) | |
| 6 | g.73644430T>A | CA364718658 | SLC17A5 | c.268A>T (p.Ile90Leu) n.34A>T c.217A>T (p.Ile73Leu) c.70A>T (p.Ile24Leu) c.61-2506A>T (n.61-2506A>T) c.289A>T (p.Ile97Leu) | |
| 6 | g.73644430T>C | CA364718660 | SLC17A5 | c.268A>G (p.Ile90Val) n.34A>G c.217A>G (p.Ile73Val) c.70A>G (p.Ile24Val) c.61-2506A>G (n.61-2506A>G) c.289A>G (p.Ile97Val) | dbSNP gnomAD v2 |
| 6 | g.73644430T>G | CA364718661 | SLC17A5 | c.268A>C (p.Ile90Leu) n.34A>C c.217A>C (p.Ile73Leu) c.70A>C (p.Ile24Leu) c.61-2506A>C (n.61-2506A>C) c.289A>C (p.Ile97Leu) | |
| 6 | g.73644430T= | CA1638225473 | SLC17A5 | c.268A= (p.Ile90=) n.34A= c.217A= (p.Ile73=) c.70A= (p.Ile24=) c.61-2506A= (n.61-2506A=) c.289A= (p.Ile97=) | |
| 6 | g.73644431G>A | CA450912340 | SLC17A5 | c.267C>T (p.Pro89=) n.33C>T c.216C>T (p.Pro72=) c.69C>T (p.Pro23=) c.61-2507C>T (n.61-2507C>T) c.288C>T (p.Pro96=) | |
| 6 | g.73644431G>C | CA450912341 | SLC17A5 | c.267C>G (p.Pro89=) n.33C>G c.216C>G (p.Pro72=) c.69C>G (p.Pro23=) c.61-2507C>G (n.61-2507C>G) c.288C>G (p.Pro96=) |