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_000009.12:g.135765193C= , CM000671.2:g.135765193C= | GRCh38 |
| NC_000009.11:g.138657039C= , CM000671.1:g.138657039C= | GRCh37 |
| NC_000009.10:g.137796860C= | NCBI36 |
| NG_033070.1:g.68009C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020822.3:c.1198C= MANE Select | NP_065873.2:p.Gln400= |
| ENST00000371757.7:c.1198C= MANE Select | ENSP00000360822.2:p.Gln400= |
| NM_001272003.1:c.1063C= | NP_001258932.1:p.Gln355= |
| NM_001272003.2:c.1063C= | NP_001258932.1:p.Gln355= |
| NM_020822.2:c.1198C= | NP_065873.2:p.Gln400= |
| ENST00000263604.5:c.1099C= | ENSP00000263604.4:p.Gln367= |
| ENST00000371757.6:c.1198C= | ENSP00000360822.2:p.Gln400= |
| ENST00000460750.5:c.*808C= | ENSP00000418777.1:n.*808C= |
| ENST00000486577.6:c.1081C= | ENSP00000417578.3:p.Gln361= |
| ENST00000487664.5:c.1198C= | ENSP00000417851.2:p.Gln400= |
| ENST00000488444.6:c.1141C= | ENSP00000419007.3:p.Gln381= |
| ENST00000490355.6:c.1141C= | ENSP00000418003.3:p.Gln381= |
| ENST00000490363.3:n.1017C= | |
| ENST00000491806.6:c.1141C= | ENSP00000419086.3:p.Gln381= |
| ENST00000628528.2:c.1063C= | ENSP00000486374.1:p.Gln355= |
| ENST00000630792.2:c.1039C= | ENSP00000486486.1:p.Gln347= |
| ENST00000631073.2:c.1141C= | ENSP00000486130.1:p.Gln381= |
| ENST00000674572.1:c.1039C= | ENSP00000501742.1:p.Gln347= |
| ENST00000675090.1:c.946C= | ENSP00000501833.1:p.Gln316= |
| ENST00000675399.1:c.946C= | ENSP00000501932.1:p.Gln316= |
| ENST00000676421.1:c.955C= | ENSP00000502322.1:p.Gln319= |
| XM_011518877.1:c.1333C= | XP_011517179.1:p.Gln445= |
| XM_011518877.3:c.1333C= | XP_011517179.1:p.Gln445= |
| XM_011518878.1:c.1342C= | XP_011517180.1:p.Gln448= |
| XM_011518878.3:c.1342C= | XP_011517180.1:p.Gln448= |
| XM_011518879.1:c.1333C= | XP_011517181.1:p.Gln445= |
| XM_011518879.3:c.1333C= | XP_011517181.1:p.Gln445= |
| XM_011518880.1:c.1099C= | XP_011517182.1:p.Gln367= |
| XM_011518881.1:c.688C= | XP_011517183.1:p.Gln230= |
| XM_011518881.3:c.688C= | XP_011517183.1:p.Gln230= |
| XM_017014931.1:c.1132C= | XP_016870420.1:p.Gln378= |
| XM_017014932.1:c.955C= | XP_016870421.1:p.Gln319= |
| XM_017014933.1:c.688C= | XP_016870422.1:p.Gln230= |
| XM_024447617.1:c.688C= | XP_024303385.1:p.Gln230= |
| XM_024447618.1:c.688C= | XP_024303386.1:p.Gln230= |