Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.31619410C>A , CM000663.2:g.31619410C>A	GRCh38
NC_000001.10:g.32085011C>A , CM000663.1:g.32085011C>A	GRCh37
NC_000001.9:g.31857598C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403528.7:c.199+19C>A MANE Select	ENSP00000384387.2:n.199+19C>A
ENST00000686354.1:n.352+19C>A
ENST00000373705.1:c.199+19C>A	ENSP00000362809.1:n.199+19C>A
ENST00000373706.9:c.199+19C>A	ENSP00000362810.5:n.199+19C>A
ENST00000403528.6:c.199+19C>A	ENSP00000384387.2:n.199+19C>A
ENST00000468521.1:n.704+19C>A
ENST00000485464.5:n.359+594C>A
NM_001525.2:c.199+19C>A	NP_001516.2:n.199+19C>A
XM_011541308.1:c.199+19C>A	XP_011539610.1:n.199+19C>A
XM_017001107.1:c.199+19C>A	XP_016856596.1:n.199+19C>A
XM_024446602.1:c.199+19C>A	XP_024302370.1:n.199+19C>A
XM_024446603.1:c.199+19C>A	XP_024302371.1:n.199+19C>A
XM_024446604.1:c.199+19C>A	XP_024302372.1:n.199+19C>A
XM_024446605.1:c.199+19C>A	XP_024302373.1:n.199+19C>A
NM_001525.3:c.199+19C>A MANE Select	NP_001516.2:n.199+19C>A