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.41746402C>G , CM000666.2:g.41746402C>G	GRCh38
NC_000004.11:g.41748419C>G , CM000666.1:g.41748419C>G	GRCh37
NC_000004.10:g.41443176C>G	NCBI36
NG_008243.1:g.7569G>C , LRG_513:g.7569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.430-80G>C MANE Select	ENSP00000226382.2:n.430-80G>C
ENST00000226382.3:c.430-80G>C	ENSP00000226382.2:n.430-80G>C
ENST00000510424.2:n.251-80G>C
NM_003924.3:c.430-80G>C , LRG_513t1:c.430-80G>C	NP_003915.2:n.430-80G>C
NM_003924.4:c.430-80G>C MANE Select	NP_003915.2:n.430-80G>C