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_000009.12:g.130872963C>T , CM000671.2:g.130872963C>T | GRCh38 |
| NC_000009.11:g.133748350C>T , CM000671.1:g.133748350C>T | GRCh37 |
| NC_000009.10:g.132738171C>T | NCBI36 |
| NG_012034.1:g.164083C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005157.6:c.1011C>T MANE Select | NP_005148.2:p.Ala337= |
| ENST00000318560.6:c.1011C>T MANE Select | ENSP00000323315.5:p.Ala337= |
| NM_005157.5:c.1011C>T | NP_005148.2:p.Ala337= |
| NM_007313.2:c.1068C>T | NP_009297.2:p.Ala356= |
| NM_007313.3:c.1068C>T | NP_009297.2:p.Ala356= |
| ENST00000318560.5:c.1011C>T | ENSP00000323315.5:p.Ala337= |
| ENST00000372348.6:c.1068C>T | ENSP00000361423.2:p.Ala356= |
| ENST00000372348.7:c.1068C>T | ENSP00000361423.2:p.Ala356= |
| ENST00000372348.9:c.1068C>T | ENSP00000361423.2:p.Ala356= |