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.43030368A>T , CM000666.2:g.43030368A>T | GRCh38 |
| NC_000004.11:g.43032385A>T , CM000666.1:g.43032385A>T | GRCh37 |
| NC_000004.10:g.42727142A>T | NCBI36 |
| NG_027718.1:g.142103A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.701A>T MANE Select | NP_001073945.1:p.Gln234Leu |
| ENST00000399770.3:c.701A>T MANE Select | ENSP00000382670.2:p.Gln234Leu |
| NM_001080476.2:c.701A>T | NP_001073945.1:p.Gln234Leu |
| ENST00000399770.2:c.701A>T | ENSP00000382670.2:p.Gln234Leu |
| XM_011513691.1:c.338A>T | XP_011511993.1:p.Gln113Leu |