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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_000001.11:g.21564188A= , CM000663.2:g.21564188A=
GRCh38
NC_000001.10:g.21890681A= , CM000663.1:g.21890681A=
GRCh37
NC_000001.9:g.21763268A=
NCBI36
NG_008940.1:g.59824A=
Transcript Alleles
HGVS
Amino-acid Change
NM_000478.6:c.620A=
MANE Select
NP_000469.3:p.Gln207=
ENST00000374840.8:c.620A=
MANE Select
ENSP00000363973.3:p.Gln207=
NM_000478.4:c.620A=
NP_000469.3:p.Gln207=
NM_000478.5:c.620A=
NP_000469.3:p.Gln207=
NM_001127501.2:c.455A=
NP_001120973.2:p.Gln152=
NM_001127501.3:c.455A=
NP_001120973.2:p.Gln152=
NM_001127501.4:c.455A=
NP_001120973.2:p.Gln152=
NM_001177520.1:c.389A=
NP_001170991.1:p.Gln130=
NM_001177520.2:c.389A=
NP_001170991.1:p.Gln130=
NM_001177520.3:c.389A=
NP_001170991.1:p.Gln130=
NM_001369803.2:c.620A=
NP_001356732.1:p.Gln207=
NM_001369804.2:c.620A=
NP_001356733.1:p.Gln207=
NM_001369805.2:c.620A=
NP_001356734.1:p.Gln207=
ENST00000374832.5:c.620A=
ENSP00000363965.1:p.Gln207=
ENST00000374840.7:c.620A=
ENSP00000363973.3:p.Gln207=
ENST00000468526.1:n.680A=
ENST00000539907.5:c.389A=
ENSP00000437674.1:p.Gln130=
ENST00000540617.5:c.455A=
ENSP00000442672.1:p.Gln152=
XM_005245818.1:c.620A=
XP_005245875.1:p.Gln207=
XM_005245820.2:c.620A=
XP_005245877.1:p.Gln207=
XM_006710546.1:c.620A=
XP_006710609.1:p.Gln207=
XM_006710546.3:c.620A=
XP_006710609.1:p.Gln207=
XM_017000903.1:c.464A=
XP_016856392.1:p.Gln155=