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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_000003.12:g.138403280C= , CM000665.2:g.138403280C=
GRCh38
NC_000003.11:g.138122122C= , CM000665.1:g.138122122C=
GRCh37
NC_000003.10:g.139604812C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001085049.3:c.*1011C=
MANE Select
NP_001078518.1:n.*1011C=
ENST00000423968.7:c.*1011C=
MANE Select
ENSP00000389682.2:n.*1011C=
NM_001085049.2:c.*1011C=
NP_001078518.1:n.*1011C=
NM_001252090.1:c.*1011C=
NP_001239019.1:n.*1011C=
NM_001252090.2:c.*1011C=
NP_001239019.1:n.*1011C=
NM_001252091.1:c.*1011C=
NP_001239020.1:n.*1011C=
NM_001252092.1:c.*1011C=
NP_001239021.1:n.*1011C=
NM_001252092.2:c.*1011C=
NP_001239021.1:n.*1011C=
NM_001252093.1:c.*1011C=
NP_001239022.1:n.*1011C=
NM_001252093.2:c.*1011C=
NP_001239022.1:n.*1011C=
NM_012219.4:c.*1011C=
NP_036351.3:n.*1011C=
ENST00000289104.8:c.*1011C=
ENSP00000289104.4:n.*1011C=
ENST00000614350.4:c.*1011C=
ENSP00000484586.1:n.*1011C=
ENST00000621127.4:c.*1011C=
ENSP00000481637.1:n.*1011C=
XM_005247228.1:c.*1011C=
XP_005247285.1:n.*1011C=
XM_005247229.2:c.*1129C=
XP_005247286.1:n.*1129C=
XM_017005887.2:c.*1011C=
XP_016861376.1:n.*1011C=
XM_024453396.1:c.*1011C=
XP_024309164.1:n.*1011C=
XM_024453397.1:c.*1129C=
XP_024309165.1:n.*1129C=
XM_024453398.1:c.*1129C=
XP_024309166.1:n.*1129C=