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_000016.10:g.17259151C>T , CM000678.2:g.17259151C>T | GRCh38 |
| NC_000016.9:g.17353008C>T , CM000678.1:g.17353008C>T | GRCh37 |
| NC_000016.8:g.17260509C>T | NCBI36 |
| NG_015843.1:g.216731G>A | |
| NG_015843.2:g.216731G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022166.4:c.750G>A MANE Select | NP_071449.1:p.Lys250= |
| ENST00000261381.7:c.750G>A MANE Select | ENSP00000261381.6:p.Lys250= |
| NM_022166.3:c.750G>A | NP_071449.1:p.Lys250= |
| ENST00000261381.6:c.750G>A | ENSP00000261381.6:p.Lys250= |
| XM_011522574.1:c.750G>A | XP_011520876.1:p.Lys250= |
| XM_017023539.2:c.750G>A | XP_016879028.1:p.Lys250= |
| XM_017023540.2:c.750G>A | XP_016879029.1:p.Lys250= |