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_000023.11:g.8568252G= , CM000685.2:g.8568252G= | GRCh38 |
| NC_000023.10:g.8536293G= , CM000685.1:g.8536293G= | GRCh37 |
| NC_000023.9:g.8496293G= | NCBI36 |
| NG_007088.1:g.168935C= | |
| NG_007088.2:g.168935C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.1187C= MANE Select | NP_000207.2:p.Ser396= |
| ENST00000262648.8:c.1187C= MANE Select | ENSP00000262648.3:p.Ser396= |
| NM_000216.2:c.1187C= | NP_000207.2:p.Ser396= |
| NM_000216.3:c.1187C= | NP_000207.2:p.Ser396= |
| ENST00000262648.7:c.1187C= | ENSP00000262648.3:p.Ser396= |
| ENST00000488294.1:n.277C= | |
| ENST00000619786.1:c.1184C= | ENSP00000478734.1:p.Ser395= |
| XM_005274501.3:c.1187C= | XP_005274558.1:p.Ser396= |
| XM_005274501.4:c.1187C= | XP_005274558.1:p.Ser396= |