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.12106380C>T , CM000672.2:g.12106380C>T | GRCh38 |
| NC_000010.10:g.12148379C>T , CM000672.1:g.12148379C>T | GRCh37 |
| NC_000010.9:g.12188385C>T | NCBI36 |
| NG_033248.1:g.42464C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2031C>T MANE Select | NP_061176.4:p.Asp677= |
| ENST00000263035.9:c.2031C>T MANE Select | ENSP00000263035.4:p.Asp677= |
| NM_018706.6:c.2031C>T | NP_061176.3:p.Asp677= |
| ENST00000263035.8:c.2031C>T | ENSP00000263035.4:p.Asp677= |
| ENST00000448829.1:c.551-1529C>T |