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SERVICES INTERRUPTION - MAINTENANCE: 2026-06-27T10:00:00-0500 — 2026-06-27T14:00:00-0500 Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI. The maintenance will upgrade a key machine used by these services. The interruptions are expected to be shorter than the full maintenance activity window.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186284155C= , CM000666.2:g.186284155C=
GRCh38
NC_000004.11:g.187205309C= , CM000666.1:g.187205309C=
GRCh37
NC_000004.10:g.187442303C=
NCBI36
NG_008051.1:g.23192C= , LRG_583:g.23192C=
Transcript Alleles
HGVS
Amino-acid Change
NM_000128.4:c.1199C=
MANE Select
NP_000119.1:p.Pro400=
ENST00000403665.7:c.1199C=
MANE Select
ENSP00000384957.2:p.Pro400=
NM_000128.3:c.1199C= , LRG_583t1:c.1199C=
NP_000119.1:p.Pro400=
ENST00000264692.8:c.1037C=
ENSP00000264692.5:p.Pro346=
ENST00000403665.6:c.1199C=
ENSP00000384957.2:p.Pro400=
XM_005262821.2:c.1202C=
XP_005262878.1:p.Pro401=
XM_005262821.4:c.1202C=
XP_005262878.1:p.Pro401=
XM_005262822.2:c.1202C=
XP_005262879.1:p.Pro401=
XM_005262822.4:c.1202C=
XP_005262879.1:p.Pro401=
XM_005262823.2:c.932C=
XP_005262880.1:p.Pro311=
XM_005262823.4:c.932C=
XP_005262880.1:p.Pro311=
XM_005262824.1:c.1202C=
XP_005262881.1:p.Pro401=
XM_006714137.1:c.1154C=
XP_006714200.1:p.Pro385=
XM_006714137.3:c.1154C=
XP_006714200.1:p.Pro385=
XM_017007884.2:c.*2171C=
XP_016863373.1:n.*2171C=
XM_017007885.2:c.*67C=
XP_016863374.1:n.*67C=
XR_001741172.2:n.1673C=
XR_938706.1:n.1607C=
XR_938707.1:n.1607C=