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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_000012.12:g.51807435A= , CM000674.2:g.51807435A=
GRCh38
NC_000012.11:g.52201219A= , CM000674.1:g.52201219A=
GRCh37
NC_000012.10:g.50487486A=
NCBI36
NG_021180.2:g.221200A=
NG_021180.3:g.222478A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000354534.11:c.*6A=
MANE Plus Clinical
ENSP00000346534.4:n.*6A=
ENST00000627620.5:c.*6A=
MANE Select
ENSP00000487583.2:n.*6A=
ENST00000662684.1:c.*6A=
ENSP00000499636.1:n.*6A=
ENST00000668547.1:c.*6A=
ENSP00000499691.1:n.*6A=
ENST00000354534.10:c.*6A=
ENSP00000346534.4:n.*6A=
ENST00000545061.5:c.*6A=
ENSP00000440360.1:n.*6A=
NM_001177984.2:c.*6A=
NP_001171455.1:n.*6A=
NM_014191.3:c.*6A=
NP_055006.1:n.*6A=
XM_006719556.2:c.*6A=
XP_006719619.1:n.*6A=
XM_011538650.1:c.*6A=
XP_011536952.1:n.*6A=
XM_011538651.1:c.*6A=
XP_011536953.1:n.*6A=
NM_001330260.1:c.*6A=
NP_001317189.1:n.*6A=
XM_006719556.4:c.*6A=
XP_006719619.1:n.*6A=
XM_011538651.3:c.*6A=
XP_011536953.1:n.*6A=
XM_017019794.2:c.*6A=
XP_016875283.1:n.*6A=
XM_017019795.2:c.*6A=
XP_016875284.1:n.*6A=
NM_001330260.2:c.*6A=
MANE Select
NP_001317189.1:n.*6A=
NM_001369788.1:c.*6A=
NP_001356717.1:n.*6A=
NM_014191.4:c.*6A=
MANE Plus Clinical
NP_055006.1:n.*6A=
NM_001177984.3:c.*6A=
NP_001171455.1:n.*6A=