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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_000020.11:g.51784219A>T , CM000682.2:g.51784219A>T
GRCh38
NC_000020.10:g.50400758A>T , CM000682.1:g.50400758A>T
GRCh37
NC_000020.9:g.49834165A>T
NCBI36
NG_008000.1:g.23291T>A , LRG_675:g.23291T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217086.9:c.*46T>A
MANE Select
ENSP00000217086.4:n.*46T>A
ENST00000217086.8:c.*46T>A
ENSP00000217086.4:n.*46T>A
ENST00000371539.7:c.*46T>A
ENSP00000360594.3:n.*46T>A
NM_020436.3:c.*46T>A , LRG_675t1:c.*46T>A
NP_065169.1:n.*46T>A
XM_005260467.2:c.*46T>A
XP_005260524.1:n.*46T>A
XM_006723834.2:c.*46T>A
XP_006723897.1:n.*46T>A
XM_011528919.1:c.*46T>A
XP_011527221.1:n.*46T>A
XM_011528920.1:c.*46T>A
XP_011527222.1:n.*46T>A
XM_011528921.1:c.*46T>A
XP_011527223.1:n.*46T>A
XM_011528922.1:c.*46T>A
XP_011527224.1:n.*46T>A
XM_011528923.1:c.*46T>A
XP_011527225.1:n.*46T>A
NM_001318031.1:c.*46T>A
NP_001304960.1:n.*46T>A
NM_020436.4:c.*46T>A
NP_065169.1:n.*46T>A
XM_005260467.4:c.*46T>A
XP_005260524.1:n.*46T>A
XM_011528921.2:c.*46T>A
XP_011527223.1:n.*46T>A
XM_011528922.2:c.*46T>A
XP_011527224.1:n.*46T>A
NM_020436.5:c.*46T>A
MANE Select
NP_065169.1:n.*46T>A
NM_001318031.2:c.*46T>A
NP_001304960.1:n.*46T>A