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_000004.12:g.109869715C>T , CM000666.2:g.109869715C>T | GRCh38 |
| NC_000004.11:g.110790871C>T , CM000666.1:g.110790871C>T | GRCh37 |
| NC_000004.10:g.111010320C>T | NCBI36 |
| NG_033249.1:g.26532C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.966C>T MANE Select | NP_940908.3:p.Asp322= |
| ENST00000594814.6:c.966C>T MANE Select | ENSP00000469759.1:p.Asp322= |
| NM_198506.4:c.966C>T | NP_940908.3:p.Asp322= |
| ENST00000327908.3:c.417C>T | ENSP00000328222.3:p.Asp139= |
| ENST00000594814.5:c.966C>T | ENSP00000469759.1:p.Asp322= |
| XM_005262979.2:c.417C>T | XP_005263036.1:p.Asp139= |
| XM_017008167.1:c.417C>T | XP_016863656.1:p.Asp139= |