Canonical Allele Identifier: CA413642165
Community Standard Title: NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile)
Gene: HDAC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72462053G>A , CM000685.2:g.72462053G>A GRCh38
NC_000023.10:g.71681903G>A , CM000685.1:g.71681903G>A GRCh37
NC_000023.9:g.71598628G>A NCBI36
NG_015851.1:g.116051C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018486.3:c.956C>T MANE Select NP_060956.1:p.Thr319Ile
ENST00000373573.9:c.956C>T MANE Select ENSP00000362674.3:p.Thr319Ile
NM_001166418.1:c.683C>T NP_001159890.1:p.Thr228Ile
NM_001166418.2:c.683C>T NP_001159890.1:p.Thr228Ile
NM_018486.2:c.956C>T NP_060956.1:p.Thr319Ile
NR_051952.1:n.1156C>T
NR_051952.2:n.896C>T
ENST00000373568.6:c.683C>T ENSP00000362669.2:p.Thr228Ile
ENST00000373568.7:c.956C>T ENSP00000362669.3:p.Thr319Ile
ENST00000373573.7:c.956C>T ENSP00000362674.3:p.Thr319Ile
ENST00000373583.5:c.164+110004C>T ENSP00000362685.1:n.164+110004C>T
ENST00000373583.6:c.878C>T ENSP00000362685.2:p.Thr293Ile
ENST00000373589.8:c.683C>T ENSP00000362691.4:p.Thr228Ile
ENST00000373589.9:c.683C>T ENSP00000362691.4:p.Thr228Ile
ENST00000415409.5:c.878C>T ENSP00000396424.1:p.Thr293Ile
ENST00000415409.6:c.956C>T ENSP00000396424.2:p.Thr319Ile
ENST00000436675.5:c.*211C>T ENSP00000416489.1:n.*211C>T
ENST00000436675.6:c.*211C>T ENSP00000416489.1:n.*211C>T
ENST00000470998.1:n.129C>T
ENST00000470998.2:c.133C>T
ENST00000478743.2:n.1039C>T
ENST00000647594.1:c.956C>T ENSP00000496814.1:p.Thr319Ile
ENST00000647606.1:c.731C>T
ENST00000647613.1:c.*709C>T ENSP00000497911.1:n.*709C>T
ENST00000647641.1:n.1043C>T
ENST00000647654.1:c.683C>T ENSP00000497568.1:p.Thr228Ile
ENST00000647718.1:n.3471C>T
ENST00000647859.1:c.956C>T ENSP00000497530.1:p.Thr319Ile
ENST00000647886.1:c.956C>T ENSP00000497188.1:p.Thr319Ile
ENST00000647980.1:c.950C>T ENSP00000498002.1:p.Thr317Ile
ENST00000648139.1:c.656C>T ENSP00000496818.1:p.Thr219Ile
ENST00000648276.1:c.200C>T ENSP00000497619.1:p.Thr67Ile
ENST00000648298.1:c.956C>T ENSP00000496866.1:p.Thr319Ile
ENST00000648452.1:c.956C>T ENSP00000497268.1:p.Thr319Ile
ENST00000648459.1:c.353C>T ENSP00000498072.1:p.Thr118Ile
ENST00000648504.1:c.897C>T ENSP00000497668.1:n.897C>T
ENST00000648711.1:c.585C>T ENSP00000498040.1:n.585C>T
ENST00000648731.1:c.1062C>T
ENST00000648834.1:c.*36C>T ENSP00000497764.1:n.*36C>T
ENST00000648850.1:c.595C>T
ENST00000648855.1:n.880C>T
ENST00000648870.1:c.956C>T ENSP00000497599.1:p.Thr319Ile
ENST00000648922.1:c.956C>T ENSP00000497072.1:p.Thr319Ile
ENST00000648939.1:c.*36C>T ENSP00000497442.1:n.*36C>T
ENST00000649097.1:c.956C>T ENSP00000497551.1:p.Thr319Ile
ENST00000649116.1:c.*513C>T ENSP00000497925.1:n.*513C>T
ENST00000649181.1:c.*318C>T ENSP00000498150.1:n.*318C>T
ENST00000649242.1:c.*641C>T ENSP00000497943.1:n.*641C>T
ENST00000649274.1:c.894C>T ENSP00000497032.1:n.894C>T
ENST00000649518.1:c.*560C>T ENSP00000498169.1:n.*560C>T
ENST00000649543.1:c.*560C>T ENSP00000496826.1:n.*560C>T
ENST00000649752.1:c.683C>T ENSP00000497267.1:p.Thr228Ile
ENST00000650076.1:c.211+26880C>T
ENST00000650471.1:c.*400C>T ENSP00000498027.1:n.*400C>T
ENST00000650604.1:c.383C>T ENSP00000497105.1:p.Thr128Ile
XM_011530986.1:c.956C>T XP_011529288.1:p.Thr319Ile
XM_011530986.3:c.956C>T XP_011529288.3:p.Thr319Ile
XM_011530987.1:c.956C>T XP_011529289.1:p.Thr319Ile
XM_011530988.1:c.956C>T XP_011529290.1:p.Thr319Ile
XM_017029640.2:c.878C>T XP_016885129.2:p.Thr293Ile
XM_017029641.2:c.878C>T XP_016885130.2:p.Thr293Ile
XM_017029642.1:c.797C>T XP_016885131.1:p.Thr266Ile
XM_017029643.2:c.770C>T XP_016885132.1:p.Thr257Ile
XM_017029644.2:c.719C>T XP_016885133.1:p.Thr240Ile
XM_017029645.2:c.770C>T XP_016885134.1:p.Thr257Ile
XM_017029646.1:c.569C>T XP_016885135.1:p.Thr190Ile
XM_024452405.1:c.371C>T XP_024308173.1:p.Thr124Ile
XR_001755711.2:n.1042C>T
XR_002958779.1:n.1042C>T
XR_002958780.1:n.1046C>T
XR_002958781.1:n.1046C>T
XR_002958782.1:n.3215C>T
XR_002958783.1:n.1022C>T
XR_938402.1:n.1042C>T
XR_938402.3:n.1042C>T