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_000008.11:g.37965621C>T , CM000670.2:g.37965621C>T | GRCh38 |
| NC_000008.10:g.37823139C>T , CM000670.1:g.37823139C>T | GRCh37 |
| NC_000008.9:g.37942296C>T | NCBI36 |
| NG_011936.1:g.6046G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.849G>A MANE Select | NP_000016.1:p.Leu283= |
| ENST00000345060.5:c.849G>A MANE Select | ENSP00000343782.3:p.Leu283= |
| NM_000025.2:c.849G>A | NP_000016.1:p.Leu283= |
| ENST00000345060.4:c.849G>A | ENSP00000343782.3:p.Leu283= |
| ENST00000520341.1:n.124G>A | |
| ENST00000520341.2:n.977G>A | |
| ENST00000614635.1:c.849G>A | ENSP00000480325.1:p.Leu283= |
| ENST00000647937.1:c.333G>A | ENSP00000497740.1:p.Leu111= |