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.55125395C>G , CM000666.2:g.55125395C>G	GRCh38
NC_000004.11:g.55991562C>G , CM000666.1:g.55991562C>G	GRCh37
NC_000004.10:g.55686319C>G	NCBI36
NG_012004.1:g.5201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263923.5:c.-102G>C MANE Select	ENSP00000263923.4:n.-102G>C
ENST00000263923.4:c.-102G>C	ENSP00000263923.4:n.-102G>C
NM_002253.2:c.-102G>C	NP_002244.1:n.-102G>C
NM_002253.3:c.-102G>C	NP_002244.1:n.-102G>C
NM_002253.4:c.-102G>C MANE Select	NP_002244.1:n.-102G>C