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.73644400C>A | CA567687515 | SLC17A5 | c.291+7G>T (n.291+7G>T) n.57+7G>T c.240+7G>T (n.240+7G>T) c.93+7G>T (n.93+7G>T) c.61-2476G>T (n.61-2476G>T) c.312+7G>T (n.312+7G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73644400C= | CA1638225439 | SLC17A5 | c.291+7G= (n.291+7G=) n.57+7G= c.240+7G= (n.240+7G=) c.93+7G= (n.93+7G=) c.61-2476G= (n.61-2476G=) c.312+7G= (n.312+7G=) | |
| 6 | g.73644400C>T | CA2573141132 | SLC17A5 | c.291+7G>A (n.291+7G>A) n.57+7G>A c.240+7G>A (n.240+7G>A) c.93+7G>A (n.93+7G>A) c.61-2476G>A (n.61-2476G>A) c.312+7G>A (n.312+7G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73644401A= | CA1638225440 | SLC17A5 | c.291+6T= (n.291+6T=) n.57+6T= c.240+6T= (n.240+6T=) c.93+6T= (n.93+6T=) c.61-2477T= (n.61-2477T=) c.312+6T= (n.312+6T=) | |
| 6 | g.73644401A>G | CA827975829 | SLC17A5 | c.291+6T>C (n.291+6T>C) n.57+6T>C c.240+6T>C (n.240+6T>C) c.93+6T>C (n.93+6T>C) c.61-2477T>C (n.61-2477T>C) c.312+6T>C (n.312+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73644403C>G | CA2679405059 | SLC17A5 | c.291+4G>C (n.291+4G>C) n.57+4G>C c.240+4G>C (n.240+4G>C) c.93+4G>C (n.93+4G>C) c.61-2479G>C (n.61-2479G>C) c.312+4G>C (n.312+4G>C) | gnomAD v4 |
| 6 | g.73644404T>C | CA567687516 | SLC17A5 | c.291+3A>G (n.291+3A>G) n.57+3A>G c.240+3A>G (n.240+3A>G) c.93+3A>G (n.93+3A>G) c.61-2480A>G (n.61-2480A>G) c.312+3A>G (n.312+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73644404T= | CA1638225441 | SLC17A5 | c.291+3A= (n.291+3A=) n.57+3A= c.240+3A= (n.240+3A=) c.93+3A= (n.93+3A=) c.61-2480A= (n.61-2480A=) c.312+3A= (n.312+3A=) | |
| 6 | g.73644405A>C | CA364718523 | SLC17A5 | c.291+2T>G (n.291+2T>G) n.57+2T>G c.240+2T>G (n.240+2T>G) c.93+2T>G (n.93+2T>G) c.61-2481T>G (n.61-2481T>G) c.312+2T>G (n.312+2T>G) | |
| 6 | g.73644405A>G | CA364718512 | SLC17A5 | c.291+2T>C (n.291+2T>C) n.57+2T>C c.240+2T>C (n.240+2T>C) c.93+2T>C (n.93+2T>C) c.61-2481T>C (n.61-2481T>C) c.312+2T>C (n.312+2T>C) | |
| 6 | g.73644405A>T | CA364718515 | SLC17A5 | c.291+2T>A (n.291+2T>A) n.57+2T>A c.240+2T>A (n.240+2T>A) c.93+2T>A (n.93+2T>A) c.61-2481T>A (n.61-2481T>A) c.312+2T>A (n.312+2T>A) | |
| 6 | g.73644406C>A | CA364718527 | SLC17A5 | c.291+1G>T (n.291+1G>T) n.57+1G>T c.240+1G>T (n.240+1G>T) c.93+1G>T (n.93+1G>T) c.61-2482G>T (n.61-2482G>T) c.312+1G>T (n.312+1G>T) | |
| 6 | g.73644406C>G | CA364718528 | SLC17A5 | c.291+1G>C (n.291+1G>C) n.57+1G>C c.240+1G>C (n.240+1G>C) c.93+1G>C (n.93+1G>C) c.61-2482G>C (n.61-2482G>C) c.312+1G>C (n.312+1G>C) | |
| 6 | g.73644406C>T | CA364718531 | SLC17A5 | c.291+1G>A (n.291+1G>A) n.57+1G>A c.240+1G>A (n.240+1G>A) c.93+1G>A (n.93+1G>A) c.61-2482G>A (n.61-2482G>A) c.312+1G>A (n.312+1G>A) | gnomAD v4 |
| 6 | g.73644407C>A | CA450912328 | SLC17A5 | c.291G>T (p.Thr97=) n.57G>T c.240G>T (p.Thr80=) c.93G>T (p.Thr31=) c.61-2483G>T (n.61-2483G>T) c.312G>T (p.Thr104=) | |
| 6 | g.73644407C= | CA1638225445 | SLC17A5 | c.291G= (p.Thr97=) n.57G= c.240G= (p.Thr80=) c.93G= (p.Thr31=) c.61-2483G= (n.61-2483G=) c.312G= (p.Thr104=) | |
| 6 | g.73644407C>G | CA450912329 | SLC17A5 | c.291G>C (p.Thr97=) n.57G>C c.240G>C (p.Thr80=) c.93G>C (p.Thr31=) c.61-2483G>C (n.61-2483G>C) c.312G>C (p.Thr104=) | |
| 6 | g.73644407C>T | CA263923 | SLC17A5 | c.291G>A (p.Thr97=) n.57G>A c.240G>A (p.Thr80=) c.93G>A (p.Thr31=) c.61-2483G>A (n.61-2483G>A) c.312G>A (p.Thr104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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=) |