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.64192812A>G , CM000685.2:g.64192812A>G | GRCh38 |
| NC_000023.10:g.63412692A>G , CM000685.1:g.63412692A>G | GRCh37 |
| NC_000023.9:g.63329417A>G | NCBI36 |
| NG_021345.1:g.17933T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152424.4:c.475T>C MANE Select | NP_689637.3:p.Phe159Leu |
| ENST00000374869.8:c.475T>C MANE Select | ENSP00000364003.4:p.Phe159Leu |
| NM_152424.3:c.475T>C | NP_689637.3:p.Phe159Leu |
| ENST00000330258.3:c.475T>C | ENSP00000329117.3:p.Phe159Leu |
| ENST00000374869.7:c.475T>C | ENSP00000364003.3:p.Phe159Leu |
| XM_011530858.1:c.475T>C | XP_011529160.1:p.Phe159Leu |