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_000014.9:g.23433228C>T , CM000676.2:g.23433228C>T	GRCh38
NC_000014.8:g.23902437C>T , CM000676.1:g.23902437C>T	GRCh37
NC_000014.7:g.22972277C>T	NCBI36
NG_007884.1:g.7434G>A , LRG_384:g.7434G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000257.4:c.202-1G>A MANE Select	NP_000248.2:n.202-1G>A
ENST00000355349.4:c.202-1G>A MANE Select	ENSP00000347507.3:n.202-1G>A
NM_000257.3:c.202-1G>A	NP_000248.2:n.202-1G>A
ENST00000355349.3:c.202-1G>A	ENSP00000347507.3:n.202-1G>A
XM_017021340.1:c.202-1G>A	XP_016876829.1:n.202-1G>A
XR_245686.3:n.308-1G>A