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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987409A= , CM000669.2:g.5987409A= | GRCh38 |
| NC_000007.13:g.6027040A= , CM000669.1:g.6027040A= | GRCh37 |
| NC_000007.12:g.5993566A= | NCBI36 |
| NG_008466.1:g.26698T= , LRG_161:g.26698T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*752T= | ENSP00000514615.2:n.*752T= | |
| ENST00000699840.2:c.1353T= | ENSP00000514638.2:p.Gly451= | |
| ENST00000699930.2:c.1248T= | ENSP00000514695.2:p.Gly416= | |
| ENST00000406569.8:c.1356T= | ENSP00000514464.1:p.Gly452= | |
| ENST00000644110.2:c.*950T= | ENSP00000496392.2:n.*950T= | |
| ENST00000699752.1:c.1200T= | ENSP00000514561.1:p.Gly400= | |
| ENST00000699753.1:c.*777T= | ENSP00000514562.1:n.*777T= | |
| ENST00000699754.1:c.1158T= | ENSP00000514563.1:p.Gly386= | |
| ENST00000699755.1:c.*755T= | ENSP00000514564.1:n.*755T= | |
| ENST00000699756.1:c.*943T= | ENSP00000514565.1:n.*943T= | |
| ENST00000699757.1:c.*613T= | ENSP00000514566.1:n.*613T= | |
| ENST00000699758.1:c.*613T= | ENSP00000514567.1:n.*613T= | |
| ENST00000699759.1:n.2210T= | ||
| ENST00000699760.1:c.1038T= | ENSP00000514568.1:p.Gly346= | |
| ENST00000699761.1:c.951T= | ENSP00000514569.1:p.Gly317= | |
| ENST00000699762.1:c.783T= | ENSP00000514570.1:p.Gly261= | |
| ENST00000699763.1:c.*446T= | ENSP00000514571.1:n.*446T= | |
| ENST00000699764.1:c.1356T= | ENSP00000514572.1:p.Gly452= | |
| ENST00000699765.1:c.*452T= | ENSP00000514573.1:n.*452T= | |
| ENST00000699766.1:c.1356T= | ENSP00000514574.1:p.Gly452= | |
| ENST00000699767.1:c.1356T= | ENSP00000514575.1:p.Gly452= | |
| ENST00000699768.1:c.1356T= | ENSP00000514576.1:p.Gly452= | |
| ENST00000699811.1:c.951T= | ENSP00000514614.1:p.Gly317= | |
| ENST00000699813.1:n.1469T= | ||
| ENST00000699814.1:c.979T= | ||
| ENST00000699815.1:c.*887T= | ENSP00000514616.1:n.*887T= | |
| ENST00000699816.1:c.*246T= | ENSP00000514617.1:n.*246T= | |
| ENST00000699817.1:c.*950T= | ENSP00000514618.1:n.*950T= | |
| ENST00000699818.1:c.951T= | ENSP00000514619.1:p.Gly317= | |
| ENST00000699819.1:c.*513T= | ENSP00000514620.1:n.*513T= | |
| ENST00000699820.1:c.1144+2391T= | ENSP00000514621.1:n.1144+2391T= | |
| ENST00000699821.1:c.951T= | ENSP00000514622.1:p.Gly317= | |
| ENST00000699822.1:c.*808T= | ENSP00000514623.1:n.*808T= | |
| ENST00000699823.1:c.951T= | ENSP00000514624.1:p.Gly317= | |
| ENST00000699824.1:c.*859T= | ENSP00000514625.1:n.*859T= | |
| ENST00000699825.1:c.795T= | ENSP00000514626.1:p.Gly265= | |
| ENST00000699826.1:c.*755T= | ENSP00000514627.1:n.*755T= | |
| ENST00000699827.1:c.1188T= | ENSP00000514628.1:p.Gly396= | |
| ENST00000699828.1:c.*446T= | ENSP00000514629.1:n.*446T= | |
| ENST00000699833.1:n.3128T= | ||
| ENST00000699837.1:c.951T= | ENSP00000514635.1:p.Gly317= | |
| ENST00000699838.1:c.*1256T= | ENSP00000514636.1:n.*1256T= | |
| ENST00000699839.1:c.1542T= | ENSP00000514637.1:p.Gly514= | |
| ENST00000699916.1:c.*613T= | ENSP00000514684.1:n.*613T= | |
| ENST00000699917.1:c.*805T= | ENSP00000514685.1:n.*805T= | |
| ENST00000699918.1:c.*857T= | ENSP00000514686.1:n.*857T= | |
| ENST00000699919.1:c.*943T= | ENSP00000514687.1:n.*943T= | |
| ENST00000699920.1:c.*992T= | ENSP00000514688.1:n.*992T= | |
| ENST00000699928.1:c.989-4418T= | ENSP00000514693.1:n.989-4418T= | |
| ENST00000699929.1:c.*657T= | ENSP00000514694.1:n.*657T= | |
| ENST00000699930.1:c.1248T= | ENSP00000514695.1:p.Gly416= | |
| ENST00000699931.1:n.2784T= | ||
| ENST00000699951.1:c.*452T= | ENSP00000514706.1:n.*452T= | |
| ENST00000699952.1:c.803+9917T= | ENSP00000514707.1:n.803+9917T= | |
| ENST00000699953.1:c.*463T= | ENSP00000514708.1:n.*463T= | |
| ENST00000699954.1:c.*657T= | ENSP00000514709.1:n.*657T= | |
| ENST00000265849.12:c.1356T= MANE Select | ENSP00000265849.7:p.Gly452= | |
| ENST00000642292.1:c.951T= | ENSP00000495524.1:p.Gly317= | |
| ENST00000642456.1:c.951T= | ENSP00000493814.1:p.Gly317= | |
| ENST00000643595.1:c.*755T= | ENSP00000494497.1:n.*755T= | |
| ENST00000644110.1:c.1038T= | ENSP00000496392.1:p.Gly346= | |
| ENST00000265849.11:c.1356T= | ENSP00000265849.7:p.Gly452= | |
| ENST00000382321.5:c.804-4418T= | ENSP00000371758.4:n.804-4418T= | |
| ENST00000406569.7:n.1356T= | ||
| ENST00000441476.6:c.1038T= | ENSP00000392843.2:p.Gly346= | |
| ENST00000469652.1:n.63-4504T= | ||
| NM_000535.5:c.1356T= , LRG_161t1:c.1356T= | NP_000526.1:p.Gly452= | |
| NR_003085.2:n.1438T= | ||
| XM_006715742.2:c.1350T= | XP_006715805.1:p.Gly450= | |
| XM_006715744.2:c.423T= | XP_006715807.1:p.Gly141= | |
| XM_011515427.1:c.1401T= | XP_011513729.1:p.Gly467= | |
| XM_011515428.1:c.1245T= | XP_011513730.1:p.Gly415= | |
| XM_011515429.1:c.1038T= | XP_011513731.1:p.Gly346= | |
| XM_011515430.1:c.1038T= | XP_011513732.1:p.Gly346= | |
| NM_000535.6:c.1356T= | NP_000526.2:p.Gly452= | |
| NM_001322003.1:c.951T= | NP_001308932.1:p.Gly317= | |
| NM_001322004.1:c.951T= | NP_001308933.1:p.Gly317= | |
| NM_001322005.1:c.951T= | NP_001308934.1:p.Gly317= | |
| NM_001322006.1:c.1200T= | NP_001308935.1:p.Gly400= | |
| NM_001322007.1:c.1038T= | NP_001308936.1:p.Gly346= | |
| NM_001322008.1:c.1038T= | NP_001308937.1:p.Gly346= | |
| NM_001322009.1:c.951T= | NP_001308938.1:p.Gly317= | |
| NM_001322010.1:c.795T= | NP_001308939.1:p.Gly265= | |
| NM_001322011.1:c.423T= | NP_001308940.1:p.Gly141= | |
| NM_001322012.1:c.423T= | NP_001308941.1:p.Gly141= | |
| NM_001322013.1:c.783T= | NP_001308942.1:p.Gly261= | |
| NM_001322014.1:c.1356T= | NP_001308943.1:p.Gly452= | |
| NM_001322015.1:c.1047T= | NP_001308944.1:p.Gly349= | |
| NR_136154.1:n.1443T= | ||
| XM_006715744.4:c.423T= | XP_006715807.1:p.Gly141= | |
| XM_017012342.2:c.423T= | XP_016867831.1:p.Gly141= | |
| XM_024446800.1:c.795T= | XP_024302568.1:p.Gly265= | |
| NM_000535.7:c.1356T= MANE Select | NP_000526.2:p.Gly452= | |
| NM_001322003.2:c.951T= | NP_001308932.1:p.Gly317= | |
| NM_001322004.2:c.951T= | NP_001308933.1:p.Gly317= | |
| NM_001322005.2:c.951T= | NP_001308934.1:p.Gly317= | |
| NM_001322006.2:c.1200T= | NP_001308935.1:p.Gly400= | |
| NM_001322008.2:c.1038T= | NP_001308937.1:p.Gly346= | |
| NM_001322009.2:c.951T= | NP_001308938.1:p.Gly317= | |
| NM_001322010.2:c.795T= | NP_001308939.1:p.Gly265= | |
| NM_001322011.2:c.423T= | NP_001308940.1:p.Gly141= | |
| NM_001322012.2:c.423T= | NP_001308941.1:p.Gly141= | |
| NM_001322013.2:c.783T= | NP_001308942.1:p.Gly261= | |
| NM_001322014.2:c.1356T= | NP_001308943.1:p.Gly452= | |
| NM_001322015.2:c.1047T= | NP_001308944.1:p.Gly349= | |
| NM_001322007.2:c.1038T= | NP_001308936.1:p.Gly346= |