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_000001.11:g.68430071C>T , CM000663.2:g.68430071C>T	GRCh38
NC_000001.10:g.68895754C>T , CM000663.1:g.68895754C>T	GRCh37
NC_000001.9:g.68668342C>T	NCBI36
NG_008472.1:g.24889G>A
NG_008472.2:g.24889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-144G>A MANE Select	ENSP00000262340.5:n.1451-144G>A
ENST00000262340.5:c.1451-144G>A	ENSP00000262340.5:n.1451-144G>A
NM_000329.2:c.1451-144G>A	NP_000320.1:n.1451-144G>A
XM_017002027.1:c.1175-144G>A	XP_016857516.1:n.1175-144G>A
NM_000329.3:c.1451-144G>A MANE Select	NP_000320.1:n.1451-144G>A

Linked Data

Genomic Alleles

Transcript Alleles