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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.90629476C>A , CM000667.2:g.90629476C>A
GRCh38
NC_000005.9:g.89925293C>A , CM000667.1:g.89925293C>A
GRCh37
NC_000005.8:g.89961049C>A
NCBI36
NG_007083.1:g.75677C>A
NG_007083.2:g.105133C>A
Transcript Alleles
HGVS
Amino-acid Change
NM_032119.4:c.1776C>A
MANE Select
NP_115495.3:p.Val592=
ENST00000405460.9:c.1776C>A
MANE Select
ENSP00000384582.2:p.Val592=
NM_032119.3:c.1776C>A
NP_115495.3:p.Val592=
NR_003149.1:n.1872C>A
NR_003149.2:n.1875C>A
ENST00000405460.6:c.1776C>A
ENSP00000384582.2:p.Val592=
ENST00000504142.1:c.541C>A
ENST00000504142.2:n.542C>A
ENST00000640109.1:n.1872C>A
XM_011543675.1:c.1776C>A
XP_011541977.1:p.Val592=
XM_011543676.1:c.1776C>A
XP_011541978.1:p.Val592=
XM_011543678.1:c.1776C>A
XP_011541980.1:p.Val592=
XM_011543679.1:c.1776C>A
XP_011541981.1:p.Val592=
XM_017009963.2:c.1776C>A
XP_016865452.1:p.Val592=
XM_017009964.2:c.1776C>A
XP_016865453.1:p.Val592=
XM_017009965.1:c.1773C>A
XP_016865454.1:p.Val591=
XM_017009966.2:c.1776C>A
XP_016865455.1:p.Val592=
XM_017009967.1:c.1680C>A
XP_016865456.1:p.Val560=
XM_017009968.2:c.1776C>A
XP_016865457.1:p.Val592=
XM_017009969.2:c.1776C>A
XP_016865458.1:p.Val592=
XM_017009970.2:c.1776C>A
XP_016865459.1:p.Val592=
XM_017009971.2:c.1776C>A
XP_016865460.1:p.Val592=
XM_017009974.2:c.1776C>A
XP_016865463.1:p.Val592=