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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94628254A>C , CM000669.2:g.94628254A>C | GRCh38 |
| NC_000007.13:g.94257566A>C , CM000669.1:g.94257566A>C | GRCh37 |
| NC_000007.12:g.94095502A>C | NCBI36 |
| NG_008893.1:g.32956T>G | |
| NG_008893.2:g.32956T>G | |
| NG_008893.3:g.33319T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415788.3:c.446T>G (SGCE) | ENSP00000405313.2:p.Val149Gly | |
| ENST00000425444.2:c.*376T>G (SGCE) | ENSP00000391892.1:n.*376T>G | |
| ENST00000428696.7:c.338T>G (SGCE) | ENSP00000397536.3:p.Val113Gly | |
| ENST00000437425.7:c.215T>G (SGCE) | ENSP00000394061.2:p.Val72Gly | |
| ENST00000445866.7:c.338T>G (SGCE) | ENSP00000398930.2:p.Val113Gly | |
| ENST00000447873.6:c.338T>G (SGCE) | ENSP00000388734.1:p.Val113Gly | |
| ENST00000450385.6:c.*135T>G (SGCE) | ENSP00000398344.2:n.*135T>G | |
| ENST00000642169.1:c.110-4857T>G (SGCE) | ENSP00000496346.1:n.110-4857T>G | |
| ENST00000642291.1:c.199T>G (SGCE) | ||
| ENST00000642353.1:n.309T>G (SGCE) | ||
| ENST00000642394.1:c.215T>G (SGCE) | ENSP00000493751.1:p.Val72Gly | |
| ENST00000642441.1:c.338T>G (SGCE) | ENSP00000495994.1:p.Val113Gly | |
| ENST00000642564.1:n.438T>G (SGCE) | ||
| ENST00000642638.1:c.*376T>G (SGCE) | ENSP00000495555.1:n.*376T>G | |
| ENST00000642707.1:c.446T>G (SGCE) | ENSP00000495270.1:p.Val149Gly | |
| ENST00000642754.1:n.406T>G (SGCE) | ||
| ENST00000642759.1:n.427T>G (SGCE) | ||
| ENST00000642904.1:n.426T>G (SGCE) | ||
| ENST00000642933.1:c.338T>G (SGCE) | ENSP00000496237.1:p.Val113Gly | |
| ENST00000643020.1:c.285T>G (SGCE) | ||
| ENST00000643041.1:c.338T>G (SGCE) | ENSP00000495311.1:p.Val113Gly | |
| ENST00000643128.1:c.338T>G (SGCE) | ENSP00000496678.1:p.Val113Gly | |
| ENST00000643193.1:c.338T>G (SGCE) | ENSP00000496559.1:p.Val113Gly | |
| ENST00000643206.1:c.110-4857T>G (SGCE) | ENSP00000496172.1:n.110-4857T>G | |
| ENST00000643272.1:c.446T>G (SGCE) | ENSP00000494488.1:p.Val149Gly | |
| ENST00000643358.1:n.1642T>G (SGCE) | ||
| ENST00000643368.1:n.200T>G (SGCE) | ||
| ENST00000643568.1:c.19T>G (SGCE) | ||
| ENST00000643605.1:c.*325T>G (SGCE) | ENSP00000496480.1:n.*325T>G | |
| ENST00000643610.1:c.338T>G (SGCE) | ENSP00000494350.1:p.Val113Gly | |
| ENST00000643714.1:n.406T>G (SGCE) | ||
| ENST00000643903.1:c.338T>G (SGCE) | ENSP00000495165.1:p.Val113Gly | |
| ENST00000643991.1:c.19T>G (SGCE) | ||
| ENST00000644087.1:c.*268T>G (SGCE) | ENSP00000495249.1:n.*268T>G | |
| ENST00000644116.1:c.338T>G (SGCE) | ENSP00000495276.1:p.Val113Gly | |
| ENST00000644122.1:c.338T>G (SGCE) | ENSP00000495236.1:p.Val113Gly | |
| ENST00000644201.1:c.320T>G (SGCE) | ENSP00000495044.1:p.Val107Gly | |
| ENST00000644375.1:c.338T>G (SGCE) | ENSP00000494315.1:p.Val113Gly | |
| ENST00000644551.1:c.338T>G (SGCE) | ENSP00000493981.1:p.Val113Gly | |
| ENST00000644609.1:c.338T>G (SGCE) | ENSP00000496045.1:p.Val113Gly | |
| ENST00000644639.1:c.338T>G (SGCE) | ENSP00000496391.1:p.Val113Gly | |
| ENST00000644674.1:n.239T>G (SGCE) | ||
| ENST00000644681.1:c.65T>G (SGCE) | ENSP00000496455.1:p.Val22Gly | |
| ENST00000644682.1:c.291T>G (SGCE) | ||
| ENST00000644816.1:c.338T>G (SGCE) | ENSP00000494898.1:p.Val113Gly | |
| ENST00000644924.1:n.173+1465T>G (SGCE) | ||
| ENST00000644966.1:c.59T>G (SGCE) | ENSP00000495105.1:p.Val20Gly | |
| ENST00000645101.1:c.446T>G (SGCE) | ENSP00000494975.1:p.Val149Gly | |
| ENST00000645109.1:c.446T>G (SGCE) | ENSP00000495931.1:p.Val149Gly | |
| ENST00000645262.1:c.215T>G (SGCE) | ENSP00000494164.1:p.Val72Gly | |
| ENST00000645390.1:n.392T>G (SGCE) | ||
| ENST00000645445.1:c.336T>G (SGCE) | ||
| ENST00000645535.1:c.65T>G (SGCE) | ENSP00000493984.1:p.Val22Gly | |
| ENST00000645579.1:n.406T>G (SGCE) | ||
| ENST00000645725.1:c.338T>G (SGCE) | ENSP00000495480.1:p.Val113Gly | |
| ENST00000645920.1:c.*145T>G (SGCE) | ENSP00000494490.1:n.*145T>G | |
| ENST00000646098.1:c.338T>G (SGCE) | ENSP00000495591.1:p.Val113Gly | |
| ENST00000646119.1:c.312T>G (SGCE) | ||
| ENST00000646137.1:c.338T>G (SGCE) | ENSP00000495199.1:p.Val113Gly | |
| ENST00000646265.1:c.427T>G (SGCE) | ||
| ENST00000646301.1:c.311T>G (SGCE) | ||
| ENST00000646434.1:c.506T>G (SGCE) | ||
| ENST00000646466.1:c.*268T>G (SGCE) | ENSP00000493511.1:n.*268T>G | |
| ENST00000646489.1:c.446T>G (SGCE) | ENSP00000496268.1:p.Val149Gly | |
| ENST00000646559.1:c.*268T>G (SGCE) | ENSP00000495838.1:n.*268T>G | |
| ENST00000646600.1:c.*268T>G (SGCE) | ENSP00000494041.1:n.*268T>G | |
| ENST00000646682.1:c.*145T>G (SGCE) | ENSP00000496461.1:n.*145T>G | |
| ENST00000646761.1:n.282T>G (SGCE) | ||
| ENST00000646879.1:c.338T>G (SGCE) | ENSP00000495209.1:p.Val113Gly | |
| ENST00000646910.1:n.371T>G (SGCE) | ||
| ENST00000646943.1:c.338T>G (SGCE) | ENSP00000494666.1:p.Val113Gly | |
| ENST00000647018.1:c.446T>G (SGCE) | ENSP00000493722.1:p.Val149Gly | |
| ENST00000647048.1:c.162T>G (SGCE) | ||
| ENST00000647096.1:c.446T>G (SGCE) | ENSP00000494192.1:p.Val149Gly | |
| ENST00000647110.1:c.233T>G (SGCE) | ENSP00000494738.1:p.Val78Gly | |
| ENST00000647334.1:c.444T>G (SGCE) | ||
| ENST00000647351.1:c.338T>G (SGCE) | ENSP00000494556.1:p.Val113Gly | |
| ENST00000648936.2:c.338T>G (SGCE) MANE Select | ENSP00000497130.1:p.Val113Gly | |
| ENST00000265735.11:c.338T>G (SGCE) | ENSP00000265735.6:p.Val113Gly | |
| ENST00000415788.2:c.446T>G (SGCE) | ENSP00000405313.2:p.Val149Gly | |
| ENST00000425444.1:c.*268T>G (SGCE) | ENSP00000391892.1:n.*268T>G | |
| ENST00000428696.6:c.338T>G (SGCE) | ENSP00000397536.2:p.Val113Gly | |
| ENST00000437425.6:c.215T>G (SGCE) | ENSP00000394061.2:p.Val72Gly | |
| ENST00000445866.6:c.338T>G (SGCE) | ENSP00000398930.2:p.Val113Gly | |
| ENST00000447873.5:c.338T>G (SGCE) | ENSP00000388734.1:p.Val113Gly | |
| ENST00000450385.5:c.*376T>G (SGCE) | ENSP00000398344.1:n.*376T>G | |
| NM_001099400.1:c.338T>G (SGCE) | NP_001092870.1:p.Val113Gly | |
| NM_001099401.1:c.338T>G (SGCE) | NP_001092871.1:p.Val113Gly | |
| NM_001301139.1:c.215T>G (SGCE) | NP_001288068.1:p.Val72Gly | |
| NM_003919.2:c.338T>G (SGCE) | NP_003910.1:p.Val113Gly | |
| XM_005250675.3:c.446T>G (SGCE) | XP_005250732.1:p.Val149Gly | |
| XM_005250677.3:c.446T>G (SGCE) | XP_005250734.1:p.Val149Gly | |
| XM_011516495.1:c.2128-3062A>C (CASD1) | XP_011514797.1:n.2128-3062A>C | |
| XM_011516663.1:c.446T>G (SGCE) | XP_011514965.1:p.Val149Gly | |
| XM_011516664.1:c.446T>G (SGCE) | XP_011514966.1:p.Val149Gly | |
| XM_011516665.1:c.338T>G (SGCE) | XP_011514967.1:p.Val113Gly | |
| XM_011516666.1:c.338T>G (SGCE) | XP_011514968.1:p.Val113Gly | |
| XM_011516667.1:c.251T>G (SGCE) | XP_011514969.1:p.Val84Gly | |
| XM_011516668.1:c.215T>G (SGCE) | XP_011514970.1:p.Val72Gly | |
| XM_011516669.1:c.65T>G (SGCE) | XP_011514971.1:p.Val22Gly | |
| NM_001346713.1:c.446T>G (SGCE) | NP_001333642.1:p.Val149Gly | |
| NM_001346715.1:c.446T>G (SGCE) | NP_001333644.1:p.Val149Gly | |
| NM_001346717.1:c.338T>G (SGCE) | NP_001333646.1:p.Val113Gly | |
| NM_001346719.1:c.251T>G (SGCE) | NP_001333648.1:p.Val84Gly | |
| NM_001346720.1:c.65T>G (SGCE) | NP_001333649.1:p.Val22Gly | |
| NM_001362807.1:c.251T>G (SGCE) | NP_001349736.1:p.Val84Gly | |
| NM_001362808.1:c.65T>G (SGCE) | NP_001349737.1:p.Val22Gly | |
| NM_001362809.1:c.215T>G (SGCE) | NP_001349738.1:p.Val72Gly | |
| XM_011516495.2:c.2128-3062A>C (CASD1) | XP_011514797.1:n.2128-3062A>C | |
| XM_011516663.2:c.446T>G (SGCE) | XP_011514965.1:p.Val149Gly | |
| XM_011516664.2:c.446T>G (SGCE) | XP_011514966.1:p.Val149Gly | |
| XM_011516665.3:c.338T>G (SGCE) | XP_011514967.1:p.Val113Gly | |
| XM_011516666.3:c.338T>G (SGCE) | XP_011514968.1:p.Val113Gly | |
| XM_011516667.2:c.251T>G (SGCE) | XP_011514969.1:p.Val84Gly | |
| XM_011516669.3:c.65T>G (SGCE) | XP_011514971.1:p.Val22Gly | |
| XM_017012763.1:c.251T>G (SGCE) | XP_016868252.1:p.Val84Gly | |
| XM_017012767.1:c.65T>G (SGCE) | XP_016868256.1:p.Val22Gly | |
| XM_024446985.1:c.215T>G (SGCE) | XP_024302753.1:p.Val72Gly | |
| XM_024446986.1:c.215T>G (SGCE) | XP_024302754.1:p.Val72Gly | |
| NM_001099400.2:c.338T>G (SGCE) | NP_001092870.1:p.Val113Gly | |
| NM_001099401.2:c.338T>G (SGCE) | NP_001092871.1:p.Val113Gly | |
| NM_001301139.2:c.215T>G (SGCE) | NP_001288068.1:p.Val72Gly | |
| NM_001346713.2:c.446T>G (SGCE) | NP_001333642.1:p.Val149Gly | |
| NM_001346715.2:c.446T>G (SGCE) | NP_001333644.1:p.Val149Gly | |
| NM_001346717.2:c.338T>G (SGCE) | NP_001333646.1:p.Val113Gly | |
| NM_001346719.2:c.251T>G (SGCE) | NP_001333648.1:p.Val84Gly | |
| NM_001346720.2:c.65T>G (SGCE) | NP_001333649.1:p.Val22Gly | |
| NM_001362807.2:c.251T>G (SGCE) | NP_001349736.1:p.Val84Gly | |
| NM_001362808.2:c.65T>G (SGCE) | NP_001349737.1:p.Val22Gly | |
| NM_001362809.2:c.215T>G (SGCE) | NP_001349738.1:p.Val72Gly | |
| NM_003919.3:c.338T>G (SGCE) MANE Select | NP_003910.1:p.Val113Gly |