Allele Registry

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_000004.12:g.43030356T>A , CM000666.2:g.43030356T>A	GRCh38
NC_000004.11:g.43032373T>A , CM000666.1:g.43032373T>A	GRCh37
NC_000004.10:g.42727130T>A	NCBI36
NG_027718.1:g.142091T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080476.3:c.694-5T>A MANE Select	NP_001073945.1:n.694-5T>A
ENST00000399770.3:c.694-5T>A MANE Select	ENSP00000382670.2:n.694-5T>A
NM_001080476.2:c.694-5T>A	NP_001073945.1:n.694-5T>A
ENST00000399770.2:c.694-5T>A	ENSP00000382670.2:n.694-5T>A
XM_011513691.1:c.331-5T>A	XP_011511993.1:n.331-5T>A