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_000012.12:g.102855163G= , CM000674.2:g.102855163G= | GRCh38 |
| NC_000012.11:g.103248941G= , CM000674.1:g.103248941G= | GRCh37 |
| NC_000012.10:g.101773071G= | NCBI36 |
| NG_008690.1:g.67440C= | |
| NG_008690.2:g.108248C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.3:c.679C= MANE Select | NP_000268.1:p.Leu227= |
| ENST00000553106.6:c.679C= MANE Select | ENSP00000448059.1:p.Leu227= |
| NM_000277.1:c.679C= | NP_000268.1:p.Leu227= |
| NM_000277.2:c.679C= | NP_000268.1:p.Leu227= |
| NM_001354304.1:c.679C= | NP_001341233.1:p.Leu227= |
| NM_001354304.2:c.679C= | NP_001341233.1:p.Leu227= |
| ENST00000307000.7:c.664C= | ENSP00000303500.2:p.Leu222= |
| ENST00000549111.5:n.775C= | |
| ENST00000553106.5:c.679C= | ENSP00000448059.1:p.Leu227= |
| XM_011538422.1:c.679C= | XP_011536724.1:p.Leu227= |
| XM_017019370.2:c.679C= | XP_016874859.1:p.Leu227= |