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.109848300T>C , CM000666.2:g.109848300T>C	GRCh38
NC_000004.11:g.110769456T>C , CM000666.1:g.110769456T>C	GRCh37
NC_000004.10:g.110988905T>C	NCBI36
NG_033249.1:g.5117T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198506.5:c.99T>C (LRIT3) MANE Select	NP_940908.3:p.Asn33=
ENST00000594814.6:c.99T>C (LRIT3) MANE Select	ENSP00000469759.1:p.Asn33=
NM_198506.4:c.99T>C (LRIT3)	NP_940908.3:p.Asn33=
ENST00000594814.5:c.99T>C (LRIT3)	ENSP00000469759.1:p.Asn33=
ENST00000652276.1:c.4663T>C (RRH)
XM_017008168.1:c.99T>C (LRIT3)	XP_016863657.1:p.Asn33=