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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_000005.10:g.119393591C>T , CM000667.2:g.119393591C>T
GRCh38
NC_000005.9:g.118729286C>T , CM000667.1:g.118729286C>T
GRCh37
NC_000005.8:g.118757185C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_014350.4:c.*210C>T
MANE Select
NP_055165.2:n.*210C>T
ENST00000504771.3:c.*210C>T
MANE Select
ENSP00000422245.1:n.*210C>T
NM_001077654.2:c.*210C>T
NP_001071122.1:n.*210C>T
NM_001077654.3:c.*210C>T
NP_001071122.1:n.*210C>T
NM_001286813.1:c.*210C>T
NP_001273742.1:n.*210C>T
NM_001286813.2:c.*210C>T
NP_001273742.1:n.*210C>T
NM_001286814.1:c.*210C>T
NP_001273743.1:n.*210C>T
NM_001286815.1:c.*210C>T
NP_001273744.1:n.*210C>T
NM_001286815.2:c.*210C>T
NP_001273744.1:n.*210C>T
NM_001286817.1:c.*210C>T
NP_001273746.1:n.*210C>T
NM_001286817.2:c.*210C>T
NP_001273746.1:n.*210C>T
NM_014350.3:c.*210C>T
NP_055165.2:n.*210C>T
ENST00000415806.2:c.*806C>T
ENSP00000408534.2:n.*806C>T
ENST00000503646.1:c.*210C>T
ENSP00000421848.1:n.*210C>T
ENST00000504771.2:c.*210C>T
ENSP00000422245.1:n.*210C>T
ENST00000513374.1:c.*210C>T
ENSP00000427424.1:n.*210C>T
XM_017009327.1:c.*210C>T
XP_016864816.1:n.*210C>T
XM_017009328.1:c.*210C>T
XP_016864817.1:n.*210C>T