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.73644412_73644415dup | CA2679405060 | SLC17A5 | c.285_288dup (p.Thr97SerfsTer4) n.51_54dup c.234_237dup (p.Thr80SerfsTer4) c.87_90dup (p.Thr31SerfsTer4) c.61-2489_61-2486dup (n.61-2489_61-2486dup) c.306_309dup (p.Thr104SerfsTer4) | gnomAD v4 |
| 6 | g.73644414T>A | CA364718556 | SLC17A5 | c.284A>T (p.Asn95Ile) n.50A>T c.233A>T (p.Asn78Ile) c.86A>T (p.Asn29Ile) c.61-2490A>T (n.61-2490A>T) c.305A>T (p.Asn102Ile) | |
| 6 | g.73644414T>C | CA364718558 | SLC17A5 | c.284A>G (p.Asn95Ser) n.50A>G c.233A>G (p.Asn78Ser) c.86A>G (p.Asn29Ser) c.61-2490A>G (n.61-2490A>G) c.305A>G (p.Asn102Ser) | |
| 6 | g.73644414T>G | CA364718557 | SLC17A5 | c.284A>C (p.Asn95Thr) n.50A>C c.233A>C (p.Asn78Thr) c.86A>C (p.Asn29Thr) c.61-2490A>C (n.61-2490A>C) c.305A>C (p.Asn102Thr) | |
| 6 | g.73644415T>A | CA364718560 | SLC17A5 | c.283A>T (p.Asn95Tyr) n.49A>T c.232A>T (p.Asn78Tyr) c.85A>T (p.Asn29Tyr) c.61-2491A>T (n.61-2491A>T) c.304A>T (p.Asn102Tyr) | |
| 6 | g.73644415T>C | CA140977794 | SLC17A5 | c.283A>G (p.Asn95Asp) n.49A>G c.232A>G (p.Asn78Asp) c.85A>G (p.Asn29Asp) c.61-2491A>G (n.61-2491A>G) c.304A>G (p.Asn102Asp) | dbSNP gnomAD v4 |
| 6 | g.73644415T>G | CA3890573 | SLC17A5 | c.283A>C (p.Asn95His) n.49A>C c.232A>C (p.Asn78His) c.85A>C (p.Asn29His) c.61-2491A>C (n.61-2491A>C) c.304A>C (p.Asn102His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644415T= | CA1638225457 | SLC17A5 | c.283A= (p.Asn95=) n.49A= c.232A= (p.Asn78=) c.85A= (p.Asn29=) c.61-2491A= (n.61-2491A=) c.304A= (p.Asn102=) | |
| 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.73644416A>C | CA364718564 | SLC17A5 | c.282T>G (p.His94Gln) n.48T>G c.231T>G (p.His77Gln) c.84T>G (p.His28Gln) c.61-2492T>G (n.61-2492T>G) c.303T>G (p.His101Gln) | |
| 6 | g.73644416A>G | CA450912332 | SLC17A5 | c.282T>C (p.His94=) n.48T>C c.231T>C (p.His77=) c.84T>C (p.His28=) c.61-2492T>C (n.61-2492T>C) c.303T>C (p.His101=) | |
| 6 | g.73644416A>T | CA364718569 | SLC17A5 | c.282T>A (p.His94Gln) n.48T>A c.231T>A (p.His77Gln) c.84T>A (p.His28Gln) c.61-2492T>A (n.61-2492T>A) c.303T>A (p.His101Gln) | |
| 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.73644417T>A | CA364718578 | SLC17A5 | c.281A>T (p.His94Leu) n.47A>T c.230A>T (p.His77Leu) c.83A>T (p.His28Leu) c.61-2493A>T (n.61-2493A>T) c.302A>T (p.His101Leu) | |
| 6 | g.73644417T>C | CA140977823 | SLC17A5 | c.281A>G (p.His94Arg) n.47A>G c.230A>G (p.His77Arg) c.83A>G (p.His28Arg) c.61-2493A>G (n.61-2493A>G) c.302A>G (p.His101Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644417T>G | CA364718582 | SLC17A5 | c.281A>C (p.His94Pro) n.47A>C c.230A>C (p.His77Pro) c.83A>C (p.His28Pro) c.61-2493A>C (n.61-2493A>C) c.302A>C (p.His101Pro) | |
| 6 | g.73644417T= | CA1638225463 | SLC17A5 | c.281A= (p.His94=) n.47A= c.230A= (p.His77=) c.83A= (p.His28=) c.61-2493A= (n.61-2493A=) c.302A= (p.His101=) | |
| 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 |