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_000023.11:g.153736833A= , CM000685.2:g.153736833A=	GRCh38
NC_000023.10:g.153002287A= , CM000685.1:g.153002287A=	GRCh37
NC_000023.9:g.152655481A=	NCBI36
NG_009022.2:g.16966A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1393+320A= MANE Select	ENSP00000218104.3:n.1393+320A=
ENST00000218104.5:c.1393+320A=	ENSP00000218104.3:n.1393+320A=
ENST00000443684.2:n.396+320A=
NM_000033.3:c.1393+320A=	NP_000024.2:n.1393+320A=
XR_938507.1:n.1810-23A=
XR_938507.2:n.1810-23A=
NM_000033.4:c.1393+320A= MANE Select	NP_000024.2:n.1393+320A=