Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability user interface services may experience intermittent service interruptions during this period.
To mitigate the recent excessive usage resembling Distributed Denial of Service attack on select Baylor ClinGen user interfaces, we may require users to log in to access the ClinGen Allele Registry user interface. This would be one of several measures under consideration to address the issue. If implemented, the login requirement may be temporary or permanent.

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20614741G>A , CM000673.2:g.20614741G>A	GRCh38
NC_000011.9:g.20636287G>A , CM000673.1:g.20636287G>A	GRCh37
NC_000011.8:g.20592863G>A	NCBI36
NG_013086.1:g.20342G>A
NG_013086.2:g.20342G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1048G>A MANE Select	NP_004202.4:p.Ala350Thr
ENST00000525748.6:c.1048G>A MANE Select	ENSP00000434364.2:p.Ala350Thr
NM_001318369.1:c.346G>A	NP_001305298.1:p.Ala116Thr
NM_001318369.2:c.346G>A	NP_001305298.1:p.Ala116Thr
NM_004211.3:c.1048G>A	NP_004202.2:p.Ala350Thr
NM_004211.4:c.1048G>A	NP_004202.3:p.Ala350Thr
ENST00000298923.11:c.*345G>A	ENSP00000298923.7:n.*345G>A
ENST00000525748.5:c.1048G>A	ENSP00000434364.1:p.Ala350Thr
XM_005253225.1:c.346G>A	XP_005253282.1:p.Ala116Thr
XM_011520473.1:c.1048G>A	XP_011518775.1:p.Ala350Thr
XM_017018544.2:c.172G>A	XP_016874033.1:p.Ala58Thr
XM_017018545.2:c.7G>A	XP_016874034.1:p.Ala3Thr