LDH DSS - SERVICE INTERRUPTION2026-04-14T12:00:00-0500 — 2026-04-14T17:00:00-0500
The LDH Data Support Service (DSS) will have a short [<15min] outage within this window, to address a storage issue.
Select variant linked-data will not be available via the LDH API nor Allele Registry UI during the short outage: gnomAD, Revel scores, Variants-in-Literature.
The LDH Data Support Service (DSS) will have a short [<15min] outage within this window, to address a storage issue.
Select variant linked-data will not be available via the LDH API nor Allele Registry UI during the short outage: gnomAD, Revel scores, Variants-in-Literature.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534244G>T , CM000679.2:g.29534244G>T | GRCh38 |
| NC_000017.10:g.27861262G>T , CM000679.1:g.27861262G>T | GRCh37 |
| NC_000017.9:g.24885388G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020791.4:c.2488G>T MANE Select | NP_065842.1:p.Glu830Ter |
| ENST00000261716.8:c.2488G>T MANE Select | ENSP00000261716.3:p.Glu830Ter |
| NM_020791.2:c.2488G>T | NP_065842.1:p.Glu830Ter |
| NM_025142.1:c.2044G>T | NP_079418.1:p.Glu682Ter |
| ENST00000261716.7:c.2488G>T | ENSP00000261716.3:p.Glu830Ter |
| ENST00000536202.1:c.2044G>T | ENSP00000438819.1:p.Glu682Ter |
| XM_011525060.1:c.2488G>T | XP_011523362.1:p.Glu830Ter |
| XM_011525060.2:c.2488G>T | XP_011523362.1:p.Glu830Ter |