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_000010.11:g.92606344C>T , CM000672.2:g.92606344C>T | GRCh38 |
| NC_000010.10:g.94366101C>T , CM000672.1:g.94366101C>T | GRCh37 |
| NC_000010.9:g.94356081C>T | NCBI36 |
| NG_032580.1:g.18277C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004523.4:c.157C>T MANE Select | NP_004514.2:p.Arg53Ter |
| ENST00000260731.5:c.157C>T MANE Select | ENSP00000260731.3:p.Arg53Ter |
| NM_004523.3:c.157C>T | NP_004514.2:p.Arg53Ter |
| ENST00000260731.4:c.157C>T | ENSP00000260731.3:p.Arg53Ter |
| ENST00000676621.1:c.157C>T | ENSP00000503639.1:p.Arg53Ter |
| ENST00000676647.1:c.-51C>T | ENSP00000503394.1:n.-51C>T |
| ENST00000676757.1:c.-51C>T | ENSP00000504289.1:n.-51C>T |
| ENST00000677720.1:c.157C>T | ENSP00000504840.1:p.Arg53Ter |