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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability user interface services may experience intermittent service interruptions during this period. To mitigate the recent excessive usage resembling Distributed Denial of Service attack on select Baylor ClinGen user interfaces, we may require users to log in to access the ClinGen Allele Registry user interface. This would be one of several measures under consideration to address the issue. If implemented, the login requirement may be temporary or permanent.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.37230872C>T , CM000667.2:g.37230872C>T
GRCh38
NC_000005.9:g.37230974C>T , CM000667.1:g.37230974C>T
GRCh37
NC_000005.8:g.37266731C>T
NCBI36
NG_032772.1:g.23557G>A
NG_032772.2:g.23557G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_001384732.1:c.1116G>A
MANE Select
NP_001371661.1:p.Thr372=
ENST00000651892.2:c.1116G>A
MANE Select
ENSP00000498265.2:p.Thr372=
NM_023073.3:c.1116G>A
NP_075561.3:p.Thr372=
NM_023073.4:c.1116G>A
NP_075561.3:p.Thr372=
ENST00000425232.6:c.1116G>A
ENSP00000389014.2:p.Thr372=
ENST00000425232.7:c.792G>A
ENST00000508244.5:c.1116G>A
ENSP00000421690.1:p.Thr372=
ENST00000675547.1:n.1186G>A
ENST00000676290.1:n.1134G>A
XM_005248345.2:c.1116G>A
XP_005248402.1:p.Thr372=
XM_005248345.4:c.1116G>A
XP_005248402.1:p.Thr372=
XM_005248346.2:c.1116G>A
XP_005248403.1:p.Thr372=
XM_005248346.4:c.1116G>A
XP_005248403.1:p.Thr372=
XM_005248347.2:c.1116G>A
XP_005248404.1:p.Thr372=
XM_005248347.4:c.1116G>A
XP_005248404.1:p.Thr372=
XM_005248349.2:c.1116G>A
XP_005248406.1:p.Thr372=
XM_005248349.4:c.1116G>A
XP_005248406.1:p.Thr372=
XM_005248350.2:c.1116G>A
XP_005248407.1:p.Thr372=
XM_005248350.4:c.1116G>A
XP_005248407.1:p.Thr372=
XM_006714489.2:c.1116G>A
XP_006714552.1:p.Thr372=
XM_011514085.1:c.1116G>A
XP_011512387.1:p.Thr372=
XM_011514085.3:c.1116G>A
XP_011512387.1:p.Thr372=
XM_011514086.1:c.1116G>A
XP_011512388.1:p.Thr372=
XM_011514086.3:c.1116G>A
XP_011512388.1:p.Thr372=
XM_011514087.1:c.1116G>A
XP_011512389.1:p.Thr372=
XM_011514087.2:c.1116G>A
XP_011512389.1:p.Thr372=
XM_011514088.1:c.1116G>A
XP_011512390.1:p.Thr372=
XM_011514088.2:c.1116G>A
XP_011512390.1:p.Thr372=
XM_011514089.1:c.1116G>A
XP_011512391.1:p.Thr372=
XM_011514089.2:c.1116G>A
XP_011512391.1:p.Thr372=
XM_011514090.1:c.798G>A
XP_011512392.1:p.Thr266=
XM_011514090.3:c.798G>A
XP_011512392.1:p.Thr266=
XM_011514091.1:c.444G>A
XP_011512393.1:p.Thr148=
XM_011514092.1:c.1116G>A
XP_011512394.1:p.Thr372=
XM_011514092.2:c.1116G>A
XP_011512394.1:p.Thr372=
XM_011514093.1:c.1116G>A
XP_011512395.1:p.Thr372=
XM_017009760.1:c.927G>A
XP_016865249.1:p.Thr309=
XM_017009761.2:c.927G>A
XP_016865250.1:p.Thr309=
XM_017009763.1:c.123G>A
XP_016865252.1:p.Thr41=
XM_017009765.1:c.-130G>A
XP_016865254.1:n.-130G>A
XM_024446183.1:c.927G>A
XP_024301951.1:p.Thr309=
XM_024446184.1:c.798G>A
XP_024301952.1:p.Thr266=
XM_024446185.1:c.444G>A
XP_024301953.1:p.Thr148=
XM_024446186.1:c.123G>A
XP_024301954.1:p.Thr41=
XR_001742208.1:n.1340G>A
XR_002956171.1:n.1340G>A
XR_427661.2:n.1291G>A
XR_925644.1:n.1291G>A
XR_925644.2:n.1340G>A