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.41474035C>A , CM000685.2:g.41474035C>A | GRCh38 |
| NC_000023.10:g.41333288C>A , CM000685.1:g.41333288C>A | GRCh37 |
| NC_000023.9:g.41218232C>A | NCBI36 |
| NG_009112.1:g.31576C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378477.3:c.567C>A MANE Select | NP_001365406.2:p.Ile189= |
| ENST00000378220.3:c.567C>A MANE Select | ENSP00000367465.2:p.Ile189= |
| NM_022567.2:c.582C>A | NP_072089.1:p.Ile194= |
| NM_022567.3:c.567C>A | NP_072089.2:p.Ile189= |
| ENST00000342595.2:c.582C>A | ENSP00000340328.2:p.Ile194= |
| ENST00000342595.3:c.567C>A | ENSP00000340328.3:p.Ile189= |
| ENST00000378220.1:c.582C>A | ENSP00000367465.1:p.Ile194= |
| ENST00000378220.2:c.582C>A | ENSP00000367465.1:p.Ile194= |
| XM_005272632.2:c.582C>A | XP_005272689.1:p.Ile194= |
| XM_017029709.1:c.582C>A | XP_016885198.1:p.Ile194= |