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.73644408G>A | CA3890572 | SLC17A5 | c.290C>T (p.Thr97Met) n.56C>T c.239C>T (p.Thr80Met) c.92C>T (p.Thr31Met) c.61-2484C>T (n.61-2484C>T) c.311C>T (p.Thr104Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644408G>C | CA364718536 | SLC17A5 | c.290C>G (p.Thr97Arg) n.56C>G c.239C>G (p.Thr80Arg) c.92C>G (p.Thr31Arg) c.61-2484C>G (n.61-2484C>G) c.311C>G (p.Thr104Arg) | |
| 6 | g.73644408G= | CA1638225449 | SLC17A5 | c.290C= (p.Thr97=) n.56C= c.239C= (p.Thr80=) c.92C= (p.Thr31=) c.61-2484C= (n.61-2484C=) c.311C= (p.Thr104=) | |
| 6 | g.73644408G>T | CA364718539 | SLC17A5 | c.290C>A (p.Thr97Lys) n.56C>A c.239C>A (p.Thr80Lys) c.92C>A (p.Thr31Lys) c.61-2484C>A (n.61-2484C>A) c.311C>A (p.Thr104Lys) | |
| 6 | g.73644409T>A | CA364718541 | SLC17A5 | c.289A>T (p.Thr97Ser) n.55A>T c.238A>T (p.Thr80Ser) c.91A>T (p.Thr31Ser) c.61-2485A>T (n.61-2485A>T) c.310A>T (p.Thr104Ser) | |
| 6 | g.73644409T>C | CA364718542 | SLC17A5 | c.289A>G (p.Thr97Ala) n.55A>G c.238A>G (p.Thr80Ala) c.91A>G (p.Thr31Ala) c.61-2485A>G (n.61-2485A>G) c.310A>G (p.Thr104Ala) | |
| 6 | g.73644409T>G | CA364718543 | SLC17A5 | c.289A>C (p.Thr97Pro) n.55A>C c.238A>C (p.Thr80Pro) c.91A>C (p.Thr31Pro) c.61-2485A>C (n.61-2485A>C) c.310A>C (p.Thr104Pro) | |
| 6 | g.73644411dup | CA2695198289 | SLC17A5 | c.289dup (p.Thr97AsnfsTer3) n.55dup c.238dup (p.Thr80AsnfsTer3) c.91dup (p.Thr31AsnfsTer3) c.61-2485dup (n.61-2485dup) c.310dup (p.Thr104AsnfsTer3) | ClinVar |
| 6 | g.73644410T>A | CA364718544 | SLC17A5 | c.288A>T (p.Gln96His) n.54A>T c.237A>T (p.Gln79His) c.90A>T (p.Gln30His) c.61-2486A>T (n.61-2486A>T) c.309A>T (p.Gln103His) | |
| 6 | g.73644410T>C | CA450912330 | SLC17A5 | c.288A>G (p.Gln96=) n.54A>G c.237A>G (p.Gln79=) c.90A>G (p.Gln30=) c.61-2486A>G (n.61-2486A>G) c.309A>G (p.Gln103=) | |
| 6 | g.73644410T>G | CA364718545 | SLC17A5 | c.288A>C (p.Gln96His) n.54A>C c.237A>C (p.Gln79His) c.90A>C (p.Gln30His) c.61-2486A>C (n.61-2486A>C) c.309A>C (p.Gln103His) | |
| 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.73644411T>A | CA364718548 | SLC17A5 | c.287A>T (p.Gln96Leu) n.53A>T c.236A>T (p.Gln79Leu) c.89A>T (p.Gln30Leu) c.61-2487A>T (n.61-2487A>T) c.308A>T (p.Gln103Leu) | |
| 6 | g.73644411T>C | CA364718547 | SLC17A5 | c.287A>G (p.Gln96Arg) n.53A>G c.236A>G (p.Gln79Arg) c.89A>G (p.Gln30Arg) c.61-2487A>G (n.61-2487A>G) c.308A>G (p.Gln103Arg) | |
| 6 | g.73644411T>G | CA364718546 | SLC17A5 | c.287A>C (p.Gln96Pro) n.53A>C c.236A>C (p.Gln79Pro) c.89A>C (p.Gln30Pro) c.61-2487A>C (n.61-2487A>C) c.308A>C (p.Gln103Pro) | |
| 6 | g.73644412G>A | CA364718552 | SLC17A5 | c.286C>T (p.Gln96Ter) n.52C>T c.235C>T (p.Gln79Ter) c.88C>T (p.Gln30Ter) c.61-2488C>T (n.61-2488C>T) c.307C>T (p.Gln103Ter) | ClinVar |
| 6 | g.73644412G>C | CA364718551 | SLC17A5 | c.286C>G (p.Gln96Glu) n.52C>G c.235C>G (p.Gln79Glu) c.88C>G (p.Gln30Glu) c.61-2488C>G (n.61-2488C>G) c.307C>G (p.Gln103Glu) | |
| 6 | g.73644412G>T | CA364718553 | SLC17A5 | c.286C>A (p.Gln96Lys) n.52C>A c.235C>A (p.Gln79Lys) c.88C>A (p.Gln30Lys) c.61-2488C>A (n.61-2488C>A) c.307C>A (p.Gln103Lys) | |
| 6 | g.73644413A= | CA1638225451 | SLC17A5 | c.285T= (p.Asn95=) n.51T= c.234T= (p.Asn78=) c.87T= (p.Asn29=) c.61-2489T= (n.61-2489T=) c.306T= (p.Asn102=) | |
| 6 | g.73644413A>C | CA364718554 | SLC17A5 | c.285T>G (p.Asn95Lys) n.51T>G c.234T>G (p.Asn78Lys) c.87T>G (p.Asn29Lys) c.61-2489T>G (n.61-2489T>G) c.306T>G (p.Asn102Lys) | |
| 6 | g.73644413A>G | CA450912331 | SLC17A5 | c.285T>C (p.Asn95=) n.51T>C c.234T>C (p.Asn78=) c.87T>C (p.Asn29=) c.61-2489T>C (n.61-2489T>C) c.306T>C (p.Asn102=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644413A>T | CA364718555 | SLC17A5 | c.285T>A (p.Asn95Lys) n.51T>A c.234T>A (p.Asn78Lys) c.87T>A (p.Asn29Lys) c.61-2489T>A (n.61-2489T>A) c.306T>A (p.Asn102Lys) | dbSNP gnomAD v2 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) |