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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_000013.11:g.113119011C= , CM000675.2:g.113119011C=
GRCh38
NC_000013.10:g.113773325C= , CM000675.1:g.113773325C=
GRCh37
NC_000013.9:g.112821326C=
NCBI36
NG_009258.1:g.1213C= , LRG_548:g.1213C=
NG_009262.1:g.18221C= , LRG_554:g.18221C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000346342.8:c.*3C=
MANE Select
ENSP00000329546.4:n.*3C=
ENST00000346342.7:c.*3C=
ENSP00000329546.3:n.*3C=
ENST00000375581.3:c.*3C=
ENSP00000364731.3:n.*3C=
ENST00000541084.5:c.*3C=
ENSP00000442051.2:n.*3C=
NM_000131.4:c.*3C= , LRG_554t1:c.*3C=
NP_000122.1:n.*3C=
NM_001267554.1:c.*3C=
NP_001254483.1:n.*3C=
NM_019616.3:c.*3C= , LRG_554t2:c.*3C=
NP_062562.1:n.*3C=
NR_051961.1:n.1425C=
XM_006719963.2:c.*3C=
XP_006720026.1:n.*3C=
XM_011537474.1:c.*3C=
XP_011535776.1:n.*3C=
XM_011537475.1:c.*3C=
XP_011535777.1:n.*3C=
XM_011537476.1:c.*3C=
XP_011535778.1:n.*3C=
XM_011537477.1:c.*3C=
XP_011535779.1:n.*3C=
XM_006719963.3:c.*3C=
XP_006720026.2:n.*3C=
XM_011537474.2:c.*3C=
XP_011535776.2:n.*3C=
XM_011537475.2:c.*3C=
XP_011535777.2:n.*3C=
XM_011537476.2:c.*3C=
XP_011535778.1:n.*3C=
NM_019616.4:c.*3C=
MANE Select
NP_062562.1:n.*3C=
NR_051961.2:n.1422C=
NM_001267554.2:c.*3C=
NP_001254483.1:n.*3C=