WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138739557G>A | CA369370212 | ATP6V0A4 | c.1555C>T (p.Pro519Ser) c.781C>T (p.Pro261Ser) c.448C>T (p.Pro150Ser) n.252-5303C>T | |
| 7 | g.138739557G>C | CA369370214 | ATP6V0A4 | c.1555C>G (p.Pro519Ala) c.781C>G (p.Pro261Ala) c.448C>G (p.Pro150Ala) n.252-5303C>G | |
| 7 | g.138739557G>T | CA369370213 | ATP6V0A4 | c.1555C>A (p.Pro519Thr) c.781C>A (p.Pro261Thr) c.448C>A (p.Pro150Thr) n.252-5303C>A | |
| 7 | g.138739558G>A | CA457938034 | ATP6V0A4 | c.1554C>T (p.Tyr518=) c.780C>T (p.Tyr260=) c.447C>T (p.Tyr149=) n.252-5304C>T | |
| 7 | g.138739558G>C | CA369370215 | ATP6V0A4 | c.1554C>G (p.Tyr518Ter) c.780C>G (p.Tyr260Ter) c.447C>G (p.Tyr149Ter) n.252-5304C>G | |
| 7 | g.138739558G>T | CA369370216 | ATP6V0A4 | c.1554C>A (p.Tyr518Ter) c.780C>A (p.Tyr260Ter) c.447C>A (p.Tyr149Ter) n.252-5304C>A | |
| 7 | g.138739559T>A | CA369370217 | ATP6V0A4 | c.1553A>T (p.Tyr518Phe) c.779A>T (p.Tyr260Phe) c.446A>T (p.Tyr149Phe) n.252-5305A>T | |
| 7 | g.138739559T>C | CA4504738 | ATP6V0A4 | c.1553A>G (p.Tyr518Cys) c.779A>G (p.Tyr260Cys) c.446A>G (p.Tyr149Cys) n.252-5305A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138739559T>G | CA369370218 | ATP6V0A4 | c.1553A>C (p.Tyr518Ser) c.779A>C (p.Tyr260Ser) c.446A>C (p.Tyr149Ser) n.252-5305A>C | |
| 7 | g.138739559T= | CA1746780027 | ATP6V0A4 | c.1553A= (p.Tyr518=) c.779A= (p.Tyr260=) c.446A= (p.Tyr149=) n.252-5305A= | |
| 7 | g.138739560A>C | CA369370219 | ATP6V0A4 | c.1552T>G (p.Tyr518Asp) c.778T>G (p.Tyr260Asp) c.445T>G (p.Tyr149Asp) n.252-5306T>G | |
| 7 | g.138739560A>G | CA369370220 | ATP6V0A4 | c.1552T>C (p.Tyr518His) c.778T>C (p.Tyr260His) c.445T>C (p.Tyr149His) n.252-5306T>C | |
| 7 | g.138739560A>T | CA369370221 | ATP6V0A4 | c.1552T>A (p.Tyr518Asn) c.778T>A (p.Tyr260Asn) c.445T>A (p.Tyr149Asn) n.252-5306T>A | |
| 7 | g.138739561T>A | CA457938035 | ATP6V0A4 | c.1551A>T (p.Pro517=) c.777A>T (p.Pro259=) c.444A>T (p.Pro148=) n.252-5307A>T | |
| 7 | g.138739561T>C | CA457938036 | ATP6V0A4 | c.1551A>G (p.Pro517=) c.777A>G (p.Pro259=) c.444A>G (p.Pro148=) n.252-5307A>G | dbSNP gnomAD v4 |
| 7 | g.138739561T>G | CA457938037 | ATP6V0A4 | c.1551A>C (p.Pro517=) c.777A>C (p.Pro259=) c.444A>C (p.Pro148=) n.252-5307A>C | |
| 7 | g.138739561T= | CA1746780028 | ATP6V0A4 | c.1551A= (p.Pro517=) c.777A= (p.Pro259=) c.444A= (p.Pro148=) n.252-5307A= | |
| 7 | g.138739562G>A | CA369370222 | ATP6V0A4 | c.1550C>T (p.Pro517Leu) c.776C>T (p.Pro259Leu) c.443C>T (p.Pro148Leu) n.252-5308C>T | |
| 7 | g.138739562G>C | CA369370223 | ATP6V0A4 | c.1550C>G (p.Pro517Arg) c.776C>G (p.Pro259Arg) c.443C>G (p.Pro148Arg) n.252-5308C>G | |
| 7 | g.138739562G>T | CA369370224 | ATP6V0A4 | c.1550C>A (p.Pro517Gln) c.776C>A (p.Pro259Gln) c.443C>A (p.Pro148Gln) n.252-5308C>A | |
| 7 | g.138739563G>A | CA369370226 | ATP6V0A4 | c.1549C>T (p.Pro517Ser) c.775C>T (p.Pro259Ser) c.442C>T (p.Pro148Ser) n.252-5309C>T | gnomAD v4 |
| 7 | g.138739563G>C | CA369370227 | ATP6V0A4 | c.1549C>G (p.Pro517Ala) c.775C>G (p.Pro259Ala) c.442C>G (p.Pro148Ala) n.252-5309C>G | |
| 7 | g.138739563G>T | CA369370225 | ATP6V0A4 | c.1549C>A (p.Pro517Thr) c.775C>A (p.Pro259Thr) c.442C>A (p.Pro148Thr) n.252-5309C>A | |
| 7 | g.138739564A>C | CA369370228 | ATP6V0A4 | c.1548T>G (p.Asn516Lys) c.774T>G (p.Asn258Lys) c.441T>G (p.Asn147Lys) n.252-5310T>G | |
| 7 | g.138739564A>G | CA457938038 | ATP6V0A4 | c.1548T>C (p.Asn516=) c.774T>C (p.Asn258=) c.441T>C (p.Asn147=) n.252-5310T>C | |
| 7 | g.138739564A>T | CA369370229 | ATP6V0A4 | c.1548T>A (p.Asn516Lys) c.774T>A (p.Asn258Lys) c.441T>A (p.Asn147Lys) n.252-5310T>A | |
| 7 | g.138739565T>A | CA369370230 | ATP6V0A4 | c.1547A>T (p.Asn516Ile) c.773A>T (p.Asn258Ile) c.440A>T (p.Asn147Ile) n.252-5311A>T | |
| 7 | g.138739565T>C | CA369370231 | ATP6V0A4 | c.1547A>G (p.Asn516Ser) c.773A>G (p.Asn258Ser) c.440A>G (p.Asn147Ser) n.252-5311A>G | |
| 7 | g.138739565T>G | CA369370232 | ATP6V0A4 | c.1547A>C (p.Asn516Thr) c.773A>C (p.Asn258Thr) c.440A>C (p.Asn147Thr) n.252-5311A>C | |
| 7 | g.138739566T>A | CA369370233 | ATP6V0A4 | c.1546A>T (p.Asn516Tyr) c.772A>T (p.Asn258Tyr) c.439A>T (p.Asn147Tyr) n.252-5312A>T | |
| 7 | g.138739566T>C | CA369370234 | ATP6V0A4 | c.1546A>G (p.Asn516Asp) c.772A>G (p.Asn258Asp) c.439A>G (p.Asn147Asp) n.252-5312A>G | |
| 7 | g.138739566T>G | CA369370235 | ATP6V0A4 | c.1546A>C (p.Asn516His) c.772A>C (p.Asn258His) c.439A>C (p.Asn147His) n.252-5312A>C | |
| 7 | g.138739567T>A | CA457938040 | ATP6V0A4 | c.1545A>T (p.Gly515=) c.771A>T (p.Gly257=) c.438A>T (p.Gly146=) n.252-5313A>T | |
| 7 | g.138739567T>C | CA457938041 | ATP6V0A4 | c.1545A>G (p.Gly515=) c.771A>G (p.Gly257=) c.438A>G (p.Gly146=) n.252-5313A>G | |
| 7 | g.138739567T>G | CA457938042 | ATP6V0A4 | c.1545A>C (p.Gly515=) c.771A>C (p.Gly257=) c.438A>C (p.Gly146=) n.252-5313A>C | |
| 7 | g.138739568C>A | CA369370236 | ATP6V0A4 | c.1544G>T (p.Gly515Val) c.770G>T (p.Gly257Val) c.437G>T (p.Gly146Val) n.252-5314G>T | |
| 7 | g.138739568C>G | CA369370237 | ATP6V0A4 | c.1544G>C (p.Gly515Ala) c.770G>C (p.Gly257Ala) c.437G>C (p.Gly146Ala) n.252-5314G>C | |
| 7 | g.138739568C>T | CA369370238 | ATP6V0A4 | c.1544G>A (p.Gly515Glu) c.770G>A (p.Gly257Glu) c.437G>A (p.Gly146Glu) n.252-5314G>A | |
| 7 | g.138739569C>A | CA369370239 | ATP6V0A4 | c.1543G>T (p.Gly515Ter) c.769G>T (p.Gly257Ter) c.436G>T (p.Gly146Ter) n.252-5315G>T | |
| 7 | g.138739569C>G | CA369370240 | ATP6V0A4 | c.1543G>C (p.Gly515Arg) c.769G>C (p.Gly257Arg) c.436G>C (p.Gly146Arg) n.252-5315G>C | |
| 7 | g.138739569C>T | CA369370241 | ATP6V0A4 | c.1543G>A (p.Gly515Arg) c.769G>A (p.Gly257Arg) c.436G>A (p.Gly146Arg) n.252-5315G>A | |
| 7 | g.138739570A>C | CA369370243 | ATP6V0A4 | c.1542T>G (p.Phe514Leu) c.768T>G (p.Phe256Leu) c.435T>G (p.Phe145Leu) n.252-5316T>G | |
| 7 | g.138739570A>G | CA457938043 | ATP6V0A4 | c.1542T>C (p.Phe514=) c.768T>C (p.Phe256=) c.435T>C (p.Phe145=) n.252-5316T>C | |
| 7 | g.138739570A>T | CA369370242 | ATP6V0A4 | c.1542T>A (p.Phe514Leu) c.768T>A (p.Phe256Leu) c.435T>A (p.Phe145Leu) n.252-5316T>A | |
| 7 | g.138739571A>C | CA369370244 | ATP6V0A4 | c.1541T>G (p.Phe514Cys) c.767T>G (p.Phe256Cys) c.434T>G (p.Phe145Cys) n.252-5317T>G | |
| 7 | g.138739571A>G | CA369370245 | ATP6V0A4 | c.1541T>C (p.Phe514Ser) c.767T>C (p.Phe256Ser) c.434T>C (p.Phe145Ser) n.252-5317T>C | gnomAD v4 |
| 7 | g.138739571A>T | CA369370246 | ATP6V0A4 | c.1541T>A (p.Phe514Tyr) c.767T>A (p.Phe256Tyr) c.434T>A (p.Phe145Tyr) n.252-5317T>A | |
| 7 | g.138739572A= | CA1746780029 | ATP6V0A4 | c.1540T= (p.Phe514=) c.766T= (p.Phe256=) c.433T= (p.Phe145=) n.252-5318T= | |
| 7 | g.138739572A>C | CA369370247 | ATP6V0A4 | c.1540T>G (p.Phe514Val) c.766T>G (p.Phe256Val) c.433T>G (p.Phe145Val) n.252-5318T>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138739572A>G | CA369370248 | ATP6V0A4 | c.1540T>C (p.Phe514Leu) c.766T>C (p.Phe256Leu) c.433T>C (p.Phe145Leu) n.252-5318T>C |