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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_000006.12:g.33174048G= , CM000668.2:g.33174048G=
GRCh38
NC_000006.11:g.33141825G= , CM000668.1:g.33141825G=
GRCh37
NC_000006.10:g.33249803G=
NCBI36
NG_011589.1:g.23421C=
Transcript Alleles
HGVS
Amino-acid Change
NM_080680.3:c.2492C=
MANE Select
NP_542411.2:p.Ser831=
ENST00000341947.7:c.2492C=
MANE Select
ENSP00000339915.2:p.Ser831=
NM_080679.2:c.2171C=
NP_542410.2:p.Ser724=
NM_080679.3:c.2171C=
NP_542410.2:p.Ser724=
NM_080680.2:c.2492C=
NP_542411.2:p.Ser831=
NM_080681.2:c.2234C=
NP_542412.2:p.Ser745=
NM_080681.3:c.2234C=
NP_542412.2:p.Ser745=
ENST00000341947.6:c.2492C=
ENSP00000339915.2:p.Ser831=
ENST00000361917.5:c.2171C=
ENSP00000355123.1:p.Ser724=
ENST00000361917.6:c.1065C=
ENST00000374708.8:c.2234C=
ENSP00000363840.4:p.Ser745=
ENST00000477772.1:n.272+2961C=
XM_011514298.1:c.1646C=
XP_011512600.1:p.Ser549=
XM_011514299.1:c.1778C=
XP_011512601.1:p.Ser593=
XM_011514299.2:c.1778C=
XP_011512601.1:p.Ser593=
XM_011514300.1:c.1598C=
XP_011512602.1:p.Ser533=
XM_011514300.2:c.1598C=
XP_011512602.1:p.Ser533=
XM_011514301.1:c.1535C=
XP_011512603.1:p.Ser512=
XM_011514302.1:c.1379C=
XP_011512604.1:p.Ser460=
XM_011514302.2:c.1379C=
XP_011512604.1:p.Ser460=
XM_017010250.1:c.2492C=
XP_016865739.1:p.Ser831=
XM_017010251.2:c.1310C=
XP_016865740.1:p.Ser437=