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_000007.14:g.44145334T>C , CM000669.2:g.44145334T>C	GRCh38
NC_000007.13:g.44184933T>C , CM000669.1:g.44184933T>C	GRCh37
NC_000007.12:g.44151458T>C	NCBI36
NG_008847.1:g.49090A>G
NG_008847.2:g.57837A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1252-54A>G	ENSP00000379142.4:n.*1252-54A>G
ENST00000616242.5:c.*374-54A>G	ENSP00000482149.2:n.*374-54A>G
ENST00000683378.1:n.480-54A>G
ENST00000336642.9:c.288-54A>G	ENSP00000338009.5:n.288-54A>G
ENST00000345378.7:c.1257-54A>G	ENSP00000223366.2:n.1257-54A>G
ENST00000403799.8:c.1254-54A>G MANE Select	ENSP00000384247.3:n.1254-54A>G
ENST00000671824.1:c.1317-54A>G	ENSP00000500264.1:n.1317-54A>G
ENST00000672743.1:n.266-54A>G
ENST00000673284.1:c.1254-54A>G	ENSP00000499852.1:n.1254-54A>G
ENST00000336642.8:c.306-54A>G	ENSP00000338009.4:n.306-54A>G
ENST00000345378.6:c.1257-54A>G	ENSP00000223366.2:n.1257-54A>G
ENST00000395796.7:c.1251-54A>G	ENSP00000379142.3:n.1251-54A>G
ENST00000403799.7:c.1254-54A>G	ENSP00000384247.3:n.1254-54A>G
ENST00000437084.1:c.1203-54A>G	ENSP00000402840.1:n.1203-54A>G
ENST00000459642.1:n.634-54A>G
ENST00000616242.4:c.1251-54A>G	ENSP00000482149.1:n.1251-54A>G
NM_000162.3:c.1254-54A>G	NP_000153.1:n.1254-54A>G
NM_033507.1:c.1257-54A>G	NP_277042.1:n.1257-54A>G
NM_033508.1:c.1251-54A>G	NP_277043.1:n.1251-54A>G
NM_000162.4:c.1254-54A>G	NP_000153.1:n.1254-54A>G
NM_001354800.1:c.1254-54A>G	NP_001341729.1:n.1254-54A>G
NM_001354801.1:c.243-54A>G	NP_001341730.1:n.243-54A>G
NM_001354802.1:c.114-54A>G	NP_001341731.1:n.114-54A>G
NM_001354803.1:c.288-54A>G	NP_001341732.1:n.288-54A>G
NM_033507.2:c.1257-54A>G	NP_277042.1:n.1257-54A>G
NM_033508.2:c.1251-54A>G	NP_277043.1:n.1251-54A>G
XM_024446707.1:c.114-54A>G	XP_024302475.1:n.114-54A>G
NM_000162.5:c.1254-54A>G MANE Select	NP_000153.1:n.1254-54A>G
NM_033507.3:c.1257-54A>G	NP_277042.1:n.1257-54A>G
NM_033508.3:c.1251-54A>G	NP_277043.1:n.1251-54A>G
NM_001354803.2:c.288-54A>G	NP_001341732.1:n.288-54A>G