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_000012.12:g.102895102C= , CM000674.2:g.102895102C=	GRCh38
NC_000012.11:g.103288880C= , CM000674.1:g.103288880C=	GRCh37
NC_000012.10:g.101813010C=	NCBI36
NG_008690.1:g.27501G=
NG_008690.2:g.68309G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.169-184G= MANE Select	ENSP00000448059.1:n.169-184G=
ENST00000307000.7:c.154-184G=	ENSP00000303500.2:n.154-184G=
ENST00000546844.1:c.169-184G=	ENSP00000446658.1:n.169-184G=
ENST00000548677.2:n.256-184G=
ENST00000548928.1:n.91-184G=
ENST00000549111.5:n.265-184G=
ENST00000550978.6:c.153-184G=
ENST00000551337.5:c.169-184G=	ENSP00000447620.1:n.169-184G=
ENST00000551988.5:n.258-184G=
ENST00000553106.5:c.169-184G=	ENSP00000448059.1:n.169-184G=
ENST00000635500.1:n.137-184G=
NM_000277.1:c.169-184G=	NP_000268.1:n.169-184G=
XM_011538422.1:c.169-184G=	XP_011536724.1:n.169-184G=
NM_000277.2:c.169-184G=	NP_000268.1:n.169-184G=
NM_001354304.1:c.169-184G=	NP_001341233.1:n.169-184G=
XM_017019370.2:c.169-184G=	XP_016874859.1:n.169-184G=
NM_000277.3:c.169-184G= MANE Select	NP_000268.1:n.169-184G=
NM_001354304.2:c.169-184G=	NP_001341233.1:n.169-184G=