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_000014.9:g.23433125G>T , CM000676.2:g.23433125G>T | GRCh38 |
| NC_000014.8:g.23902334G>T , CM000676.1:g.23902334G>T | GRCh37 |
| NC_000014.7:g.22972174G>T | NCBI36 |
| NG_007884.1:g.7537C>A , LRG_384:g.7537C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.304C>A MANE Select | NP_000248.2:p.Leu102Ile |
| ENST00000355349.4:c.304C>A MANE Select | ENSP00000347507.3:p.Leu102Ile |
| NM_000257.3:c.304C>A | NP_000248.2:p.Leu102Ile |
| ENST00000355349.3:c.304C>A | ENSP00000347507.3:p.Leu102Ile |
| XM_017021340.1:c.304C>A | XP_016876829.1:p.Leu102Ile |
| XR_245686.3:n.410C>A |