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_000017.11:g.38335212C>T , CM000679.2:g.38335212C>T | GRCh38 |
| NC_000017.9:g.33744621C>T | NCBI36 |
| NG_032655.2:g.13599G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004334.4:c.1466G>A MANE Select | NP_001004334.3:p.Arg489Gln |
| ENST00000616987.5:c.1466G>A MANE Select | ENSP00000483469.2:p.Arg489Gln |
| NM_001004334.3:c.1466G>A | NP_001004334.3:p.Arg489Gln |
| ENST00000616987.4:c.1466G>A | ENSP00000483469.1:p.Arg489Gln |
| ENST00000621958.1:c.1469G>A | ENSP00000480024.1:p.Arg490Gln |