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.109848231C>A , CM000666.2:g.109848231C>A | GRCh38 |
| NC_000004.11:g.110769387C>A , CM000666.1:g.110769387C>A | GRCh37 |
| NC_000004.10:g.110988836C>A | NCBI36 |
| NG_033249.1:g.5048C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.30C>A (LRIT3) MANE Select | NP_940908.3:p.Val10= |
| ENST00000594814.6:c.30C>A (LRIT3) MANE Select | ENSP00000469759.1:p.Val10= |
| NM_198506.4:c.30C>A (LRIT3) | NP_940908.3:p.Val10= |
| ENST00000594814.5:c.30C>A (LRIT3) | ENSP00000469759.1:p.Val10= |
| ENST00000652276.1:c.4594C>A (RRH) | |
| XM_017008168.1:c.30C>A (LRIT3) | XP_016863657.1:p.Val10= |