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_000001.11:g.94001914T>C , CM000663.2:g.94001914T>C | GRCh38 |
| NC_000001.10:g.94467470T>C , CM000663.1:g.94467470T>C | GRCh37 |
| NC_000001.9:g.94240058T>C | NCBI36 |
| NG_009073.1:g.124236A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6226A>G MANE Select | NP_000341.2:p.Lys2076Glu |
| ENST00000370225.4:c.6226A>G MANE Select | ENSP00000359245.3:p.Lys2076Glu |
| NM_000350.2:c.6226A>G | NP_000341.2:p.Lys2076Glu |
| ENST00000370225.3:c.6226A>G | ENSP00000359245.3:p.Lys2076Glu |
| ENST00000465352.1:n.642A>G | |
| ENST00000536513.5:c.2602A>G | ENSP00000439707.2:p.Lys868Glu |