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 |
|---|---|---|---|---|---|
| 17 | g.44260402A>C | CA399794340 | SLC4A1 | c.485+2T>G (n.485+2T>G) n.624+2T>G c.290+2T>G (n.290+2T>G) | gnomAD v4 |
| 17 | g.44260402A>G | CA399794347 | SLC4A1 | c.485+2T>C (n.485+2T>C) n.624+2T>C c.290+2T>C (n.290+2T>C) | |
| 17 | g.44260402A>T | CA399794356 | SLC4A1 | c.485+2T>A (n.485+2T>A) n.624+2T>A c.290+2T>A (n.290+2T>A) | |
| 17 | g.44260403C>A | CA399794361 | SLC4A1 | c.485+1G>T (n.485+1G>T) n.624+1G>T c.290+1G>T (n.290+1G>T) | |
| 17 | g.44260403C>G | CA399794375 | SLC4A1 | c.485+1G>C (n.485+1G>C) n.624+1G>C c.290+1G>C (n.290+1G>C) | |
| 17 | g.44260403C>T | CA399794379 | SLC4A1 | c.485+1G>A (n.485+1G>A) n.624+1G>A c.290+1G>A (n.290+1G>A) | |
| 17 | g.44260404C>A | CA399794385 | SLC4A1 | c.485G>T (p.Ser162Ile) n.419G>T n.624G>T c.290G>T (p.Ser97Ile) | dbSNP |
| 17 | g.44260404C= | CA2261310888 | SLC4A1 | c.485G= (p.Ser162=) n.419G= n.624G= c.290G= (p.Ser97=) | |
| 17 | g.44260404C>G | CA399794393 | SLC4A1 | c.485G>C (p.Ser162Thr) n.419G>C n.624G>C c.290G>C (p.Ser97Thr) | |
| 17 | g.44260404C>T | CA399794388 | SLC4A1 | c.485G>A (p.Ser162Asn) n.419G>A n.624G>A c.290G>A (p.Ser97Asn) | dbSNP gnomAD v2 |
| 17 | g.44260405T>A | CA399794396 | SLC4A1 | c.484A>T (p.Ser162Cys) n.418A>T n.623A>T c.289A>T (p.Ser97Cys) | |
| 17 | g.44260405T>C | CA399794397 | SLC4A1 | c.484A>G (p.Ser162Gly) n.418A>G n.623A>G c.289A>G (p.Ser97Gly) | |
| 17 | g.44260405T>G | CA399794398 | SLC4A1 | c.484A>C (p.Ser162Arg) n.418A>C n.623A>C c.289A>C (p.Ser97Arg) | |
| 17 | g.44260406G>A | CA500288547 | SLC4A1 | c.483C>T (p.His161=) n.417C>T n.622C>T c.288C>T (p.His96=) | gnomAD v4 |
| 17 | g.44260406G>C | CA399794400 | SLC4A1 | c.483C>G (p.His161Gln) n.417C>G n.622C>G c.288C>G (p.His96Gln) | |
| 17 | g.44260406G>T | CA399794404 | SLC4A1 | c.483C>A (p.His161Gln) n.417C>A n.622C>A c.288C>A (p.His96Gln) | |
| 17 | g.44260407T>A | CA399794412 | SLC4A1 | c.482A>T (p.His161Leu) n.416A>T n.621A>T c.287A>T (p.His96Leu) | |
| 17 | g.44260407T>C | CA399794417 | SLC4A1 | c.482A>G (p.His161Arg) n.416A>G n.621A>G c.287A>G (p.His96Arg) | |
| 17 | g.44260407T>G | CA399794428 | SLC4A1 | c.482A>C (p.His161Pro) n.416A>C n.621A>C c.287A>C (p.His96Pro) | |
| 17 | g.44260408G>A | CA399794429 | SLC4A1 | c.481C>T (p.His161Tyr) n.415C>T n.620C>T c.286C>T (p.His96Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260408G>C | CA399794430 | SLC4A1 | c.481C>G (p.His161Asp) n.415C>G n.620C>G c.286C>G (p.His96Asp) | |
| 17 | g.44260408G= | CA2261310889 | SLC4A1 | c.481C= (p.His161=) n.415C= n.620C= c.286C= (p.His96=) | |
| 17 | g.44260408G>T | CA399794431 | SLC4A1 | c.481C>A (p.His161Asn) n.415C>A n.620C>A c.286C>A (p.His96Asn) | dbSNP |
| 17 | g.44260409T>A | CA399794432 | SLC4A1 | c.480A>T (p.Lys160Asn) n.414A>T n.619A>T c.285A>T (p.Lys95Asn) | |
| 17 | g.44260409T>C | CA500288548 | SLC4A1 | c.480A>G (p.Lys160=) n.414A>G n.619A>G c.285A>G (p.Lys95=) | |
| 17 | g.44260409T>G | CA399794433 | SLC4A1 | c.480A>C (p.Lys160Asn) n.414A>C n.619A>C c.285A>C (p.Lys95Asn) | |
| 17 | g.44260410T>A | CA399794434 | SLC4A1 | c.479A>T (p.Lys160Ile) n.413A>T n.618A>T c.284A>T (p.Lys95Ile) | |
| 17 | g.44260410T>C | CA399794436 | SLC4A1 | c.479A>G (p.Lys160Arg) n.413A>G n.618A>G c.284A>G (p.Lys95Arg) | |
| 17 | g.44260410T>G | CA399794440 | SLC4A1 | c.479A>C (p.Lys160Thr) n.413A>C n.618A>C c.284A>C (p.Lys95Thr) | |
| 17 | g.44260411T>A | CA399794443 | SLC4A1 | c.478A>T (p.Lys160Ter) n.412A>T n.617A>T c.283A>T (p.Lys95Ter) | |
| 17 | g.44260411T>C | CA399794446 | SLC4A1 | c.478A>G (p.Lys160Glu) n.412A>G n.617A>G c.283A>G (p.Lys95Glu) | |
| 17 | g.44260411T>G | CA399794457 | SLC4A1 | c.478A>C (p.Lys160Gln) n.412A>C n.617A>C c.283A>C (p.Lys95Gln) | |
| 17 | g.44260412A>C | CA500288549 | SLC4A1 | c.477T>G (p.Leu159=) n.411T>G n.616T>G c.282T>G (p.Leu94=) | |
| 17 | g.44260412A>G | CA500288550 | SLC4A1 | c.477T>C (p.Leu159=) n.411T>C n.616T>C c.282T>C (p.Leu94=) | dbSNP |
| 17 | g.44260412A>T | CA500288551 | SLC4A1 | c.477T>A (p.Leu159=) n.411T>A n.616T>A c.282T>A (p.Leu94=) | |
| 17 | g.44260413A>C | CA399794465 | SLC4A1 | c.476T>G (p.Leu159Arg) n.410T>G n.615T>G c.281T>G (p.Leu94Arg) | |
| 17 | g.44260413A>G | CA399794478 | SLC4A1 | c.476T>C (p.Leu159Pro) n.410T>C n.615T>C c.281T>C (p.Leu94Pro) | |
| 17 | g.44260413A>T | CA399794479 | SLC4A1 | c.476T>A (p.Leu159His) n.410T>A n.615T>A c.281T>A (p.Leu94His) | |
| 17 | g.44260414G>A | CA399794481 | SLC4A1 | c.475C>T (p.Leu159Phe) n.409C>T n.614C>T c.280C>T (p.Leu94Phe) | |
| 17 | g.44260414G>C | CA399794484 | SLC4A1 | c.475C>G (p.Leu159Val) n.409C>G n.614C>G c.280C>G (p.Leu94Val) | |
| 17 | g.44260414G>T | CA399794488 | SLC4A1 | c.475C>A (p.Leu159Ile) n.409C>A n.614C>A c.280C>A (p.Leu94Ile) | |
| 17 | g.44260415C>A | CA500288552 | SLC4A1 | c.474G>T (p.Leu158=) n.408G>T n.613G>T c.279G>T (p.Leu93=) | |
| 17 | g.44260415C>G | CA500288553 | SLC4A1 | c.474G>C (p.Leu158=) n.408G>C n.613G>C c.279G>C (p.Leu93=) | |
| 17 | g.44260415C>T | CA500288554 | SLC4A1 | c.474G>A (p.Leu158=) n.408G>A n.613G>A c.279G>A (p.Leu93=) | |
| 17 | g.44260416A>C | CA399794495 | SLC4A1 | c.473T>G (p.Leu158Arg) n.407T>G n.612T>G c.278T>G (p.Leu93Arg) | |
| 17 | g.44260416A>G | CA399794493 | SLC4A1 | c.473T>C (p.Leu158Pro) n.407T>C n.612T>C c.278T>C (p.Leu93Pro) | |
| 17 | g.44260416A>T | CA399794491 | SLC4A1 | c.473T>A (p.Leu158Gln) n.407T>A n.612T>A c.278T>A (p.Leu93Gln) | |
| 17 | g.44260417G>A | CA500288555 | SLC4A1 | c.472C>T (p.Leu158=) n.406C>T n.611C>T c.277C>T (p.Leu93=) | |
| 17 | g.44260417G>C | CA399794498 | SLC4A1 | c.472C>G (p.Leu158Val) n.406C>G n.611C>G c.277C>G (p.Leu93Val) | |
| 17 | g.44260417G>T | CA399794501 | SLC4A1 | c.472C>A (p.Leu158Met) n.406C>A n.611C>A c.277C>A (p.Leu93Met) |