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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.72012256G= , CM000672.2:g.72012256G=
GRCh38
NC_000010.10:g.73772014G= , CM000672.1:g.73772014G=
GRCh37
NC_000010.9:g.73442020G=
NCBI36
NG_012635.1:g.52895G=
Transcript Alleles
HGVS
Amino-acid Change
NM_004273.5:c.*3785G=
MANE Select
NP_004264.2:n.*3785G=
ENST00000373115.5:c.*3785G=
MANE Select
ENSP00000362207.4:n.*3785G=
NM_004273.4:c.*3785G=
NP_004264.2:n.*3785G=
ENST00000373115.4:c.*3785G=
ENSP00000362207.4:n.*3785G=
XM_006718075.2:c.*3785G=
XP_006718138.1:n.*3785G=
XM_006718075.4:c.*3785G=
XP_006718138.1:n.*3785G=
XM_011540369.1:c.*3785G=
XP_011538671.1:n.*3785G=
XM_011540369.2:c.*3785G=
XP_011538671.1:n.*3785G=