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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_000001.11:g.25543691A= , CM000663.2:g.25543691A=
GRCh38
NC_000001.10:g.25870182A= , CM000663.1:g.25870182A=
GRCh37
NC_000001.9:g.25742769A=
NCBI36
NG_008932.1:g.5107A= , LRG_276:g.5107A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374338.5:c.-8A=
MANE Select
ENSP00000363458.4:n.-8A=
ENST00000374338.4:c.-8A=
ENSP00000363458.4:n.-8A=
NM_015627.2:c.-8A= , LRG_276t1:c.-8A=
NP_056442.2:n.-8A=
XM_006710559.2:c.-8A=
XP_006710622.1:n.-8A=
XM_006710560.2:c.-8A=
XP_006710623.1:n.-8A=
XM_006710561.2:c.-8A=
XP_006710624.1:n.-8A=
XM_011541209.1:c.-8A=
XP_011539511.1:n.-8A=
XM_011541210.1:c.-8A=
XP_011539512.1:n.-8A=
XM_011541211.1:c.-8A=
XP_011539513.1:n.-8A=
XM_011541212.1:c.-8A=
XP_011539514.1:n.-8A=
XR_426598.2:n.112A=
XR_946602.1:n.112A=
XR_946603.1:n.112A=
XM_006710559.4:c.-8A=
XP_006710622.1:n.-8A=
XM_006710560.4:c.-8A=
XP_006710623.1:n.-8A=
XM_006710561.4:c.-8A=
XP_006710624.1:n.-8A=
XM_011541209.3:c.-8A=
XP_011539511.1:n.-8A=
XM_011541210.3:c.-8A=
XP_011539512.1:n.-8A=
XM_011541211.3:c.-8A=
XP_011539513.1:n.-8A=
XM_011541212.3:c.-8A=
XP_011539514.1:n.-8A=
XM_017000995.2:c.-8A=
XP_016856484.1:n.-8A=
XR_001737112.2:n.63A=
XR_001737113.2:n.63A=
XR_002956258.1:n.63A=
XR_426598.4:n.63A=
XR_946602.3:n.63A=
XR_946603.3:n.63A=
NM_015627.3:c.-8A=
MANE Select
NP_056442.2:n.-8A=