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.178991560C>A , CM000667.2:g.178991560C>A | GRCh38 |
| NC_000005.9:g.178418561C>A , CM000667.1:g.178418561C>A | GRCh37 |
| NC_000005.8:g.178351167C>A | NCBI36 |
| NG_008105.1:g.8564G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.722-1G>T MANE Select | NP_000834.2:n.722-1G>T |
| ENST00000517717.3:c.722-1G>T MANE Select | ENSP00000430767.1:n.722-1G>T |
| NM_000843.3:c.722-1G>T | NP_000834.2:n.722-1G>T |
| ENST00000231188.9:c.722-1G>T | ENSP00000231188.5:n.722-1G>T |
| ENST00000517717.1:c.722-1G>T | ENSP00000430767.1:n.722-1G>T |
| ENST00000650031.1:c.722-1G>T | ENSP00000497110.1:n.722-1G>T |