×
OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400 The first of two essential broad service outages will occur over the weekend. The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned. Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.155235013G>A , CM000663.2:g.155235013G>A
GRCh38
NC_000001.10:g.155204804G>A , CM000663.1:g.155204804G>A
GRCh37
NC_000001.9:g.153471428G>A
NCBI36
NG_009783.1:g.14685C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368373.8:c.1593C>T
MANE Select
ENSP00000357357.3:p.Tyr531=
ENST00000327247.9:c.1593C>T
ENSP00000314508.5:p.Tyr531=
ENST00000368373.7:c.1593C>T
ENSP00000357357.3:p.Tyr531=
ENST00000427500.7:c.1446C>T
ENSP00000402577.2:p.Tyr482=
ENST00000428024.3:c.1332C>T
ENSP00000397986.2:p.Tyr444=
ENST00000464536.1:n.191-192C>T
ENST00000478472.1:n.953C>T
NM_000157.3:c.1593C>T
NP_000148.2:p.Tyr531=
NM_001005741.2:c.1593C>T
NP_001005741.1:p.Tyr531=
NM_001005742.2:c.1593C>T
NP_001005742.1:p.Tyr531=
NM_001171811.1:c.1332C>T
NP_001165282.1:p.Tyr444=
NM_001171812.1:c.1446C>T
NP_001165283.1:p.Tyr482=
XM_006711270.1:c.1593C>T
XP_006711333.1:p.Tyr531=
XM_011509407.1:c.1593C>T
XP_011507709.1:p.Tyr531=
NM_000157.4:c.1593C>T
MANE Select
NP_000148.2:p.Tyr531=
NM_001005741.3:c.1593C>T
NP_001005741.1:p.Tyr531=
NM_001005742.3:c.1593C>T
NP_001005742.1:p.Tyr531=
NM_001171811.2:c.1332C>T
NP_001165282.1:p.Tyr444=
NM_001171812.2:c.1446C>T
NP_001165283.1:p.Tyr482=