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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.13824497T= , CM000663.2:g.13824497T=
GRCh38
NC_000001.10:g.14150992T= , CM000663.1:g.14150992T=
GRCh37
NC_000001.9:g.14023579T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001393986.1:c.*1362T=
MANE Select
NP_001380915.1:n.*1362T=
ENST00000311066.10:c.*1362T=
MANE Select
ENSP00000312352.6:n.*1362T=
NM_001135610.1:c.*1313T=
NP_001129082.1:n.*1313T=
NM_001135610.2:c.*1313T=
NP_001129082.1:n.*1313T=
NM_001393987.1:c.*1362T=
NP_001380916.1:n.*1362T=
NM_012231.4:c.*1362T=
NP_036363.2:n.*1362T=
NM_012231.5:c.*1362T=
NP_036363.2:n.*1362T=
ENST00000235372.11:c.*1362T=
ENSP00000235372.6:n.*1362T=
ENST00000376048.9:c.*1313T=
ENSP00000365216.5:n.*1313T=
XM_011542092.1:c.*1313T=
XP_011540394.1:n.*1313T=
XM_011542093.1:c.*1313T=
XP_011540395.1:n.*1313T=
XM_017002255.1:c.*1362T=
XP_016857744.1:n.*1362T=
XM_017002256.1:c.*1362T=
XP_016857745.1:n.*1362T=
XM_017002259.2:c.*1362T=
XP_016857748.1:n.*1362T=
XM_017002260.2:c.*1362T=
XP_016857749.1:n.*1362T=
XM_017002261.2:c.*1362T=
XP_016857750.1:n.*1362T=
XM_017002263.2:c.*1362T=
XP_016857752.1:n.*1362T=
XM_017002264.2:c.*1313T=
XP_016857753.1:n.*1313T=
XR_002957562.1:n.6349T=