Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24542229C>G , CM000666.2:g.24542229C>G	GRCh38
NC_000004.11:g.24543852C>G , CM000666.1:g.24543852C>G	GRCh37
NC_000004.10:g.24152950C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336812.5:c.1336-207G>C MANE Select	ENSP00000336741.4:n.1336-207G>C
ENST00000336812.4:c.1336-207G>C	ENSP00000336741.4:n.1336-207G>C
NM_001358.2:c.1336-207G>C	NP_001349.2:n.1336-207G>C
XR_925314.1:n.1546-207G>C
XR_001741152.2:n.1497-207G>C
NM_001358.3:c.1336-207G>C MANE Select	NP_001349.2:n.1336-207G>C