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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.186271772G= , CM000666.2:g.186271772G=
GRCh38
NC_000004.11:g.187192926G= , CM000666.1:g.187192926G=
GRCh37
NC_000004.10:g.187429920G=
NCBI36
NG_008051.1:g.10809G= , LRG_583:g.10809G=
Transcript Alleles
HGVS
Amino-acid Change
NM_000128.4:c.218+1G=
MANE Select
NP_000119.1:n.218+1G=
ENST00000403665.7:c.218+1G=
MANE Select
ENSP00000384957.2:n.218+1G=
NM_000128.3:c.218+1G= , LRG_583t1:c.218+1G=
NP_000119.1:n.218+1G=
NM_001354804.1:c.218+1G=
NP_001341733.1:n.218+1G=
NM_001354804.2:c.218+1G=
NP_001341733.1:n.218+1G=
ENST00000264692.8:c.218+1G=
ENSP00000264692.5:n.218+1G=
ENST00000403665.6:c.218+1G=
ENSP00000384957.2:n.218+1G=
ENST00000492972.6:c.218+1G=
ENSP00000424479.1:n.218+1G=
XM_005262821.2:c.218+1G=
XP_005262878.1:n.218+1G=
XM_005262821.4:c.218+1G=
XP_005262878.1:n.218+1G=
XM_005262822.2:c.218+1G=
XP_005262879.1:n.218+1G=
XM_005262822.4:c.218+1G=
XP_005262879.1:n.218+1G=
XM_005262823.2:c.218+1G=
XP_005262880.1:n.218+1G=
XM_005262823.4:c.218+1G=
XP_005262880.1:n.218+1G=
XM_005262824.1:c.218+1G=
XP_005262881.1:n.218+1G=
XM_006714137.1:c.218+1G=
XP_006714200.1:n.218+1G=
XM_006714137.3:c.218+1G=
XP_006714200.1:n.218+1G=
XM_017007884.2:c.218+1G=
XP_016863373.1:n.218+1G=
XM_017007885.2:c.218+1G=
XP_016863374.1:n.218+1G=
XM_017007886.2:c.218+1G=
XP_016863375.1:n.218+1G=
XR_001741172.2:n.551+1G=
XR_938706.1:n.570+1G=
XR_938707.1:n.570+1G=