SERVICES INTERRUPTION - MAINTENANCE: 2026-06-27T10:00:00-0500 — 2026-06-27T14:00:00-0500
Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI.
The maintenance will upgrade a key machine used by these services.
The interruptions are expected to be shorter than the full maintenance activity window.
Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI.
The maintenance will upgrade a key machine used by these services.
The interruptions are expected to be shorter than the full maintenance activity window.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084450C= , CM000678.2:g.2084450C= | GRCh38 |
| NC_000016.9:g.2134451C= , CM000678.1:g.2134451C= | GRCh37 |
| NC_000016.8:g.2074452C= | NCBI36 |
| NG_005895.1:g.40145C= , LRG_487:g.40145C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000548.5:c.4228C= MANE Select | NP_000539.2:p.Leu1410= |
| ENST00000219476.9:c.4228C= MANE Select | ENSP00000219476.3:p.Leu1410= |
| NM_000548.3:c.4228C= , LRG_487t1:c.4228C= | NP_000539.2:p.Leu1410= |
| NM_000548.4:c.4228C= | NP_000539.2:p.Leu1410= |
| NM_001077183.1:c.4027C= | NP_001070651.1:p.Leu1343= |
| NM_001077183.2:c.4027C= | NP_001070651.1:p.Leu1343= |
| NM_001077183.3:c.4027C= | NP_001070651.1:p.Leu1343= |
| NM_001114382.1:c.4159C= | NP_001107854.1:p.Leu1387= |
| NM_001114382.2:c.4159C= | NP_001107854.1:p.Leu1387= |
| NM_001114382.3:c.4159C= | NP_001107854.1:p.Leu1387= |
| NM_001318827.1:c.3919C= | NP_001305756.1:p.Leu1307= |
| NM_001318827.2:c.3919C= | NP_001305756.1:p.Leu1307= |
| NM_001318829.1:c.3883C= | NP_001305758.1:p.Leu1295= |
| NM_001318829.2:c.3883C= | NP_001305758.1:p.Leu1295= |
| NM_001318831.1:c.3496C= | NP_001305760.1:p.Leu1166= |
| NM_001318831.2:c.3496C= | NP_001305760.1:p.Leu1166= |
| NM_001318832.1:c.4060C= | NP_001305761.1:p.Leu1354= |
| NM_001318832.2:c.4060C= | NP_001305761.1:p.Leu1354= |
| NM_001363528.1:c.4030C= | NP_001350457.1:p.Leu1344= |
| NM_001363528.2:c.4030C= | NP_001350457.1:p.Leu1344= |
| NM_001370404.1:c.4096C= | NP_001357333.1:p.Leu1366= |
| NM_001370405.1:c.4099C= | NP_001357334.1:p.Leu1367= |
| NM_021055.2:c.4099C= | NP_066399.2:p.Leu1367= |
| NM_021055.3:c.4099C= | NP_066399.2:p.Leu1367= |
| ENST00000219476.7:c.4228C= | ENSP00000219476.3:p.Leu1410= |
| ENST00000350773.8:c.4159C= | ENSP00000344383.4:p.Leu1387= |
| ENST00000350773.9:c.4159C= | ENSP00000344383.4:p.Leu1387= |
| ENST00000382538.10:c.3883C= | ENSP00000371978.6:p.Leu1295= |
| ENST00000401874.6:c.4027C= | ENSP00000384468.2:p.Leu1343= |
| ENST00000401874.7:c.4027C= | ENSP00000384468.2:p.Leu1343= |
| ENST00000439117.6:c.*3395C= | ENSP00000406980.2:n.*3395C= |
| ENST00000439673.6:c.3919C= | ENSP00000399232.2:p.Leu1307= |
| ENST00000497886.5:n.1986C= | |
| ENST00000568454.5:c.4060C= | ENSP00000454487.1:p.Leu1354= |
| ENST00000568454.6:c.4060C= | ENSP00000454487.1:p.Leu1354= |
| ENST00000568566.6:c.*2577C= | ENSP00000455997.2:n.*2577C= |
| ENST00000569110.1:c.410C= | |
| ENST00000569110.2:c.464C= | |
| ENST00000569930.1:n.1343C= | |
| ENST00000569930.2:n.2110C= | |
| ENST00000642206.2:c.4075C= | ENSP00000495146.2:p.Leu1359= |
| ENST00000642365.1:c.2882C= | |
| ENST00000642365.2:c.4225C= | ENSP00000495459.2:p.Leu1409= |
| ENST00000642561.1:c.4099C= | ENSP00000495099.1:p.Leu1367= |
| ENST00000642728.1:n.410C= | |
| ENST00000642797.1:c.4030C= | ENSP00000493846.1:p.Leu1344= |
| ENST00000642936.1:c.4096C= | ENSP00000494514.1:p.Leu1366= |
| ENST00000643088.1:c.4027C= | ENSP00000494747.1:p.Leu1343= |
| ENST00000643177.1:n.242C= | |
| ENST00000643426.1:n.1876C= | |
| ENST00000643946.1:c.4159C= | ENSP00000495927.1:p.Leu1387= |
| ENST00000644043.1:c.4099C= | ENSP00000496262.1:p.Leu1367= |
| ENST00000644329.1:c.4027C= | ENSP00000496611.1:p.Leu1343= |
| ENST00000644335.1:c.4030C= | ENSP00000496317.1:p.Leu1344= |
| ENST00000644399.1:c.4149C= | |
| ENST00000644417.2:c.*4608C= | ENSP00000493912.2:n.*4608C= |
| ENST00000645024.1:n.2312C= | |
| ENST00000645186.1:c.471C= | |
| ENST00000646388.1:c.4228C= | ENSP00000495921.1:p.Leu1410= |
| ENST00000646464.2:c.*6977C= | ENSP00000496610.2:n.*6977C= |
| ENST00000646634.1:n.3043C= | |
| ENST00000646674.1:n.1480C= | |
| ENST00000647042.1:n.1451C= | |
| ENST00000647180.1:n.1341C= | |
| XM_005255529.3:c.4099C= | XP_005255586.2:p.Leu1367= |
| XM_005255531.3:c.4030C= | XP_005255588.2:p.Leu1344= |
| XM_005255531.4:c.4030C= | XP_005255588.2:p.Leu1344= |
| XM_011522636.1:c.4282C= | XP_011520938.1:p.Leu1428= |
| XM_011522636.2:c.4282C= | XP_011520938.1:p.Leu1428= |
| XM_011522637.1:c.4279C= | XP_011520939.1:p.Leu1427= |
| XM_011522637.2:c.4279C= | XP_011520939.1:p.Leu1427= |
| XM_011522638.1:c.4171C= | XP_011520940.1:p.Leu1391= |
| XM_011522638.2:c.4444C= | XP_011520940.2:p.Leu1482= |
| XM_011522639.1:c.4153C= | XP_011520941.1:p.Leu1385= |
| XM_011522639.2:c.4153C= | XP_011520941.1:p.Leu1385= |
| XM_011522640.1:c.4150C= | XP_011520942.1:p.Leu1384= |
| XM_011522640.2:c.4150C= | XP_011520942.1:p.Leu1384= |
| XM_011522641.1:c.3919C= | XP_011520943.1:p.Leu1307= |
| XM_017023615.1:c.4225C= | XP_016879104.1:p.Leu1409= |
| XM_017023616.1:c.4096C= | XP_016879105.1:p.Leu1366= |
| XM_017023617.1:c.4192C= | XP_016879106.1:p.Leu1398= |
| XM_017023618.1:c.2938C= | XP_016879107.1:p.Leu980= |
| XM_024450413.1:c.4027C= | XP_024306181.1:p.Leu1343= |