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_000008.11:g.118947860T>C , CM000670.2:g.118947860T>C	GRCh38
NC_000008.10:g.119960099T>C , CM000670.1:g.119960099T>C	GRCh37
NC_000008.9:g.120029280T>C	NCBI36
NG_012202.1:g.9285A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297350.9:c.30+3932A>G MANE Select	ENSP00000297350.4:n.30+3932A>G
ENST00000297350.8:c.30+3932A>G	ENSP00000297350.4:n.30+3932A>G
ENST00000517352.1:c.30+3932A>G	ENSP00000427924.1:n.30+3932A>G
NM_002546.3:c.30+3932A>G	NP_002537.3:n.30+3932A>G
NM_002546.4:c.30+3932A>G MANE Select	NP_002537.3:n.30+3932A>G