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_000023.11:g.641177A>C , CM000685.2:g.641177A>C	GRCh38
NC_000023.10:g.601912A>C , CM000685.1:g.601912A>C	GRCh37
NC_000023.9:g.521912A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.633+90A>C MANE Select	ENSP00000508521.1:n.633+90A>C
ENST00000334060.8:c.633+90A>C	ENSP00000335505.3:n.633+90A>C
ENST00000381575.6:c.633+90A>C	ENSP00000370987.1:n.633+90A>C
ENST00000381578.6:c.633+90A>C	ENSP00000370990.1:n.633+90A>C
ENST00000554971.6:c.633+90A>C	ENSP00000452016.1:n.633+90A>C