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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.117173494A>G , CM000670.2:g.117173494A>G
GRCh38
NC_000008.10:g.118185733A>G , CM000670.1:g.118185733A>G
GRCh37
NC_000008.9:g.118254914A>G
NCBI36
NG_016991.1:g.228222A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_173851.3:c.*813A>G
MANE Select
NP_776250.2:n.*813A>G
ENST00000456015.7:c.*813A>G
MANE Select
ENSP00000415011.2:n.*813A>G
NM_001172811.1:c.*813A>G
NP_001166282.1:n.*813A>G
NM_001172811.2:c.*813A>G
NP_001166282.1:n.*813A>G
NM_001172813.1:c.*813A>G
NP_001166284.1:n.*813A>G
NM_001172813.2:c.*813A>G
NP_001166284.1:n.*813A>G
NM_001172814.1:c.*813A>G
NP_001166285.1:n.*813A>G
NM_001172814.2:c.*813A>G
NP_001166285.1:n.*813A>G
NM_001172815.1:c.*813A>G
NP_001166286.1:n.*813A>G
NM_001172815.2:c.*813A>G
NP_001166286.1:n.*813A>G
NM_001172815.3:c.*813A>G
NP_001166286.1:n.*813A>G
NM_173851.2:c.*813A>G
NP_776250.2:n.*813A>G
ENST00000427715.2:c.*813A>G
ENSP00000407505.2:n.*813A>G
ENST00000456015.6:c.1923A>G
ENSP00000415011.2:n.1923A>G
ENST00000519688.5:c.*813A>G
ENSP00000431069.1:n.*813A>G
XM_011516881.1:c.*813A>G
XP_011515183.1:n.*813A>G
XM_011516882.1:c.*813A>G
XP_011515184.1:n.*813A>G
XM_024447083.1:c.*813A>G
XP_024302851.1:n.*813A>G
XR_001746038.1:n.705-6T>C
XR_928566.1:n.920-6T>C
XR_928566.2:n.863-6T>C
XR_928567.1:n.513-6T>C
XR_928567.2:n.476-6T>C
XR_928568.1:n.718-6T>C
XR_928568.3:n.716-6T>C
XR_928569.1:n.761-6T>C
XR_928569.2:n.714-6T>C
XR_928570.1:n.761-6T>C
XR_928570.2:n.714-6T>C