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_000005.10:g.52932612C>T , CM000667.2:g.52932612C>T | GRCh38 |
| NC_000005.9:g.52228442C>T , CM000667.1:g.52228442C>T | GRCh37 |
| NC_000005.8:g.52264199C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181501.2:c.2861+476C>T MANE Select | NP_852478.1:n.2861+476C>T |
| ENST00000282588.7:c.2861+476C>T MANE Select | ENSP00000282588.5:n.2861+476C>T |
| NM_181501.1:c.2861+476C>T | NP_852478.1:n.2861+476C>T |
| ENST00000282588.6:c.2861+476C>T | ENSP00000282588.5:n.2861+476C>T |
| ENST00000504669.5:n.5536+476C>T | |
| ENST00000506275.1:n.1461C>T | |
| ENST00000650673.1:c.*2023+476C>T | ENSP00000498529.1:n.*2023+476C>T |