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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_000002.12:g.156325739A= , CM000664.2:g.156325739A=
GRCh38
NC_000002.11:g.157182251A= , CM000664.1:g.157182251A=
GRCh37
NC_000002.10:g.156890497A=
NCBI36
NG_011821.1:g.12037T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700228.1:c.*5T=
ENSP00000514865.1:n.*5T=
ENST00000700229.1:c.766T=
ENST00000700230.1:c.1342T=
ENSP00000514867.1:n.1342T=
ENST00000700231.1:c.*5T=
ENSP00000514868.1:n.*5T=
ENST00000339562.9:c.*5T=
MANE Select
ENSP00000344479.4:n.*5T=
ENST00000675870.1:c.*313T=
ENSP00000502739.1:n.*313T=
ENST00000339562.8:c.*5T=
ENSP00000344479.4:n.*5T=
ENST00000409572.5:c.*5T=
ENSP00000386747.1:n.*5T=
ENST00000417764.5:c.*313T=
ENSP00000415632.1:n.*313T=
ENST00000417972.5:c.*313T=
ENSP00000394671.1:n.*313T=
ENST00000426264.5:c.*5T=
ENSP00000389986.1:n.*5T=
NM_006186.3:c.*5T=
NP_006177.1:n.*5T=
XM_005246621.2:c.*5T=
XP_005246678.1:n.*5T=
XM_005246622.2:c.*5T=
XP_005246679.1:n.*5T=
XM_005246623.1:c.*5T=
XP_005246680.1:n.*5T=
XM_006712553.2:c.*5T=
XP_006712616.1:n.*5T=
XM_011511246.1:c.*36T=
XP_011509548.1:n.*36T=
NM_173173.2:c.*5T=
NP_775265.1:n.*5T=
XM_005246621.4:c.*5T=
XP_005246678.1:n.*5T=
XM_006712553.4:c.*5T=
XP_006712616.1:n.*5T=
XM_011511246.2:c.*36T=
XP_011509548.1:n.*36T=
XM_017004219.2:c.*5T=
XP_016859708.1:n.*5T=
XM_017004220.2:c.*5T=
XP_016859709.1:n.*5T=
XR_001738751.2:n.2049T=
XR_001738752.2:n.1871T=
XR_427087.4:n.1928T=
NM_006186.4:c.*5T=
MANE Select
NP_006177.1:n.*5T=
NM_173173.3:c.*5T=
NP_775265.1:n.*5T=