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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_000011.10:g.77130637G>A , CM000673.2:g.77130637G>A
GRCh38
NC_000011.9:g.76841683G>A , CM000673.1:g.76841683G>A
GRCh37
NC_000011.8:g.76519331G>A
NCBI36
NG_009086.1:g.7374G>A
NG_009086.2:g.7392G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000260.4:c.3G>A
MANE Select
NP_000251.3:p.Met1Ile
ENST00000409709.9:c.3G>A
MANE Select
ENSP00000386331.3:p.Met1Ile
NM_000260.3:c.3G>A
NP_000251.3:p.Met1Ile
NM_001127179.2:c.3G>A
NP_001120651.2:p.Met1Ile
NM_001127180.1:c.3G>A
NP_001120652.1:p.Met1Ile
NM_001127180.2:c.3G>A
NP_001120652.1:p.Met1Ile
NM_001369365.1:c.-111G>A
NP_001356294.1:n.-111G>A
ENST00000409619.6:c.-111G>A
ENSP00000386635.2:n.-111G>A
ENST00000409709.7:c.3G>A
ENSP00000386331.3:p.Met1Ile
ENST00000409893.5:c.3G>A
ENSP00000386689.1:p.Met1Ile
ENST00000458637.6:c.3G>A
ENSP00000392185.2:p.Met1Ile
ENST00000620575.4:c.3G>A
ENSP00000477640.1:p.Met1Ile
XM_005274012.2:c.3G>A
XP_005274069.1:p.Met1Ile
XM_006718558.2:c.3G>A
XP_006718621.1:p.Met1Ile
XM_006718559.2:c.3G>A
XP_006718622.1:p.Met1Ile
XM_006718560.2:c.3G>A
XP_006718623.1:p.Met1Ile
XM_006718561.2:c.3G>A
XP_006718624.1:p.Met1Ile
XM_011545044.1:c.3G>A
XP_011543346.1:p.Met1Ile
XM_011545044.2:c.3G>A
XP_011543346.1:p.Met1Ile
XM_011545045.1:c.3G>A
XP_011543347.1:p.Met1Ile
XM_011545047.1:c.3G>A
XP_011543349.1:p.Met1Ile
XM_011545048.1:c.3G>A
XP_011543350.1:p.Met1Ile
XM_011545049.1:c.3G>A
XP_011543351.1:p.Met1Ile
XM_011545051.1:c.3G>A
XP_011543353.1:p.Met1Ile
XM_011545052.1:c.3G>A
XP_011543354.1:p.Met1Ile
XR_949938.1:n.323G>A
XR_949941.1:n.323G>A
XR_949942.1:n.325G>A
XR_949943.1:n.325G>A