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_000013.11:g.113733073C>T , CM000675.2:g.113733073C>T | GRCh38 |
| NC_000013.10:g.114436046C>T , CM000675.1:g.114436046C>T | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002929.3:c.1384C>T MANE Select | NP_002920.1:p.Gln462Ter |
| ENST00000335678.7:c.1384C>T MANE Select | ENSP00000334876.5:p.Gln462Ter |
| NM_002929.2:c.1384C>T | NP_002920.1:p.Gln462Ter |
| ENST00000335678.6:c.1384C>T | ENSP00000334876.5:p.Gln462Ter |
| ENST00000545304.1:n.367C>T | |
| XM_017020684.1:c.679C>T | XP_016876173.1:p.Gln227Ter |