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_000014.9:g.23431266A>G , CM000676.2:g.23431266A>G	GRCh38
NC_000014.8:g.23900475A>G , CM000676.1:g.23900475A>G	GRCh37
NC_000014.7:g.22970315A>G	NCBI36
NG_007884.1:g.9396T>C , LRG_384:g.9396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.796+152T>C MANE Select	ENSP00000347507.3:n.796+152T>C
ENST00000355349.3:c.796+152T>C	ENSP00000347507.3:n.796+152T>C
NM_000257.3:c.796+152T>C	NP_000248.2:n.796+152T>C
XR_245686.3:n.902+152T>C
XM_017021340.1:c.796+152T>C	XP_016876829.1:n.796+152T>C
NM_000257.4:c.796+152T>C MANE Select	NP_000248.2:n.796+152T>C