Canonical Allele Identifier: CA16043287
Gene: HDAC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 372884
ClinVar RCV Id: RCV000413537
dbSNP Id: rs1057518047
MyVariant Identifiers: chrX:g.71787757C>A (hg19) chrX:g.72567907C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72567907C>A , CM000685.2:g.72567907C>A GRCh38
NC_000023.10:g.71787757C>A , CM000685.1:g.71787757C>A GRCh37
NC_000023.9:g.71704482C>A NCBI36
NG_015851.1:g.10197G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373554.6:c.419G>T ENSP00000362655.1:p.Gly140Val
ENST00000373556.8:c.419G>T ENSP00000362657.3:p.Gly140Val
ENST00000373560.7:c.419G>T ENSP00000362661.2:p.Gly140Val
ENST00000373568.7:c.419G>T ENSP00000362669.3:p.Gly140Val
ENST00000373571.6:c.419G>T ENSP00000362672.1:p.Gly140Val
ENST00000373573.9:c.419G>T MANE Select ENSP00000362674.3:p.Gly140Val
ENST00000373583.6:c.419G>T ENSP00000362685.2:p.Gly140Val
ENST00000373589.9:c.164+4150G>T ENSP00000362691.4:n.164+4150G>T
ENST00000412342.6:c.*117G>T ENSP00000400180.1:n.*117G>T
ENST00000415409.6:c.419G>T ENSP00000396424.2:p.Gly140Val
ENST00000421523.6:c.260G>T ENSP00000398997.2:p.Gly87Val
ENST00000436675.6:c.419G>T ENSP00000416489.1:p.Gly140Val
ENST00000439122.7:c.419G>T ENSP00000414486.2:p.Gly140Val
ENST00000478743.2:n.505G>T
ENST00000647594.1:c.419G>T ENSP00000496814.1:p.Gly140Val
ENST00000647606.1:c.162G>T
ENST00000647613.1:c.*250G>T ENSP00000497911.1:n.*250G>T
ENST00000647641.1:n.506G>T
ENST00000647654.1:c.164+4150G>T ENSP00000497568.1:n.164+4150G>T
ENST00000647718.1:n.474G>T
ENST00000647859.1:c.419G>T ENSP00000497530.1:p.Gly140Val
ENST00000647886.1:c.419G>T ENSP00000497188.1:p.Gly140Val
ENST00000647974.1:c.163G>T
ENST00000647980.1:c.419G>T ENSP00000498002.1:p.Gly140Val
ENST00000648036.1:c.419G>T ENSP00000496994.1:p.Gly140Val
ENST00000648101.1:n.499G>T
ENST00000648139.1:c.419G>T ENSP00000496818.1:p.Gly140Val
ENST00000648285.1:n.220+4150G>T
ENST00000648298.1:c.419G>T ENSP00000496866.1:p.Gly140Val
ENST00000648452.1:c.419G>T ENSP00000497268.1:p.Gly140Val
ENST00000648459.1:c.116G>T ENSP00000498072.1:p.Gly39Val
ENST00000648504.1:c.356G>T ENSP00000497668.1:p.Gly119Val
ENST00000648577.1:c.419G>T ENSP00000497552.1:p.Gly140Val
ENST00000648711.1:c.62+4150G>T ENSP00000498040.1:n.62+4150G>T
ENST00000648731.1:c.339G>T
ENST00000648834.1:c.419G>T ENSP00000497764.1:p.Gly140Val
ENST00000648855.1:n.343G>T
ENST00000648870.1:c.419G>T ENSP00000497599.1:p.Gly140Val
ENST00000648922.1:c.419G>T ENSP00000497072.1:p.Gly140Val
ENST00000648939.1:c.419G>T ENSP00000497442.1:p.Gly140Val
ENST00000648962.1:c.419G>T ENSP00000497516.1:p.Gly140Val
ENST00000649097.1:c.419G>T ENSP00000497551.1:p.Gly140Val
ENST00000649116.1:c.419G>T ENSP00000497925.1:p.Gly140Val
ENST00000649181.1:c.419G>T ENSP00000498150.1:p.Gly140Val
ENST00000649242.1:c.419G>T ENSP00000497943.1:p.Gly140Val
ENST00000649274.1:c.357G>T ENSP00000497032.1:n.357G>T
ENST00000649518.1:c.419G>T ENSP00000498169.1:p.Gly140Val
ENST00000649543.1:c.419G>T ENSP00000496826.1:p.Gly140Val
ENST00000649752.1:c.164+4150G>T ENSP00000497267.1:n.164+4150G>T
ENST00000650126.1:c.419G>T ENSP00000498144.1:p.Gly140Val
ENST00000650471.1:c.295+847G>T ENSP00000498027.1:n.295+847G>T
ENST00000650604.1:c.164+4150G>T ENSP00000497105.1:n.164+4150G>T
ENST00000650636.1:c.419G>T ENSP00000497191.1:p.Gly140Val
ENST00000373554.5:c.419G>T ENSP00000362655.1:p.Gly140Val
ENST00000373556.7:c.419G>T ENSP00000362657.3:p.Gly140Val
ENST00000373559.8:c.164+4150G>T ENSP00000362660.4:n.164+4150G>T
ENST00000373560.6:c.419G>T ENSP00000362661.2:p.Gly140Val
ENST00000373568.6:c.164+4150G>T ENSP00000362669.2:n.164+4150G>T
ENST00000373571.5:c.419G>T ENSP00000362672.1:p.Gly140Val
ENST00000373573.7:c.419G>T ENSP00000362674.3:p.Gly140Val
ENST00000373583.5:c.164+4150G>T ENSP00000362685.1:n.164+4150G>T
ENST00000373589.8:c.164+4150G>T ENSP00000362691.4:n.164+4150G>T
ENST00000412342.5:c.*117G>T ENSP00000400180.1:n.*117G>T
ENST00000415409.5:c.419G>T ENSP00000396424.1:p.Gly140Val
ENST00000421523.5:c.302G>T ENSP00000398997.1:p.Gly101Val
ENST00000436675.5:c.419G>T ENSP00000416489.1:p.Gly140Val
ENST00000439122.6:c.419G>T ENSP00000414486.2:p.Gly140Val
ENST00000478743.1:n.377+847G>T
NM_001166418.1:c.164+4150G>T NP_001159890.1:n.164+4150G>T
NM_001166419.1:c.419G>T NP_001159891.1:p.Gly140Val
NM_001166420.1:c.419G>T NP_001159892.1:p.Gly140Val
NM_001166422.1:c.419G>T NP_001159894.1:p.Gly140Val
NM_001166448.1:c.164+4150G>T NP_001159920.1:n.164+4150G>T
NM_018486.2:c.419G>T NP_060956.1:p.Gly140Val
NR_051952.1:n.637+847G>T
XM_011530986.1:c.419G>T XP_011529288.1:p.Gly140Val
XM_011530987.1:c.419G>T XP_011529289.1:p.Gly140Val
XM_011530988.1:c.419G>T XP_011529290.1:p.Gly140Val
XR_938402.1:n.505G>T
XM_011530986.3:c.419G>T XP_011529288.3:p.Gly140Val
XM_017029640.2:c.419G>T XP_016885129.2:p.Gly140Val
XM_017029641.2:c.419G>T XP_016885130.2:p.Gly140Val
XM_017029642.1:c.278+4150G>T XP_016885131.1:n.278+4150G>T
XM_017029643.2:c.533G>T XP_016885132.1:p.Gly178Val
XM_017029644.2:c.278+4150G>T XP_016885133.1:n.278+4150G>T
XM_017029645.2:c.533G>T XP_016885134.1:p.Gly178Val
XM_017029646.1:c.32G>T XP_016885135.1:p.Gly11Val
XM_017029647.2:c.419G>T XP_016885136.2:p.Gly140Val
XM_024452405.1:c.-353G>T XP_024308173.1:n.-353G>T
XR_001755711.2:n.505G>T
XR_002958779.1:n.505G>T
XR_002958780.1:n.505G>T
XR_002958781.1:n.505G>T
XR_002958782.1:n.499+4150G>T
XR_002958783.1:n.499+4150G>T
XR_938402.3:n.505G>T
NM_018486.3:c.419G>T MANE Select NP_060956.1:p.Gly140Val
NM_001166418.2:c.164+4150G>T NP_001159890.1:n.164+4150G>T
NM_001166419.2:c.419G>T NP_001159891.1:p.Gly140Val
NM_001166422.2:c.419G>T NP_001159894.1:p.Gly140Val
NM_001166448.2:c.164+4150G>T NP_001159920.1:n.164+4150G>T
NR_051952.2:n.377+847G>T
NM_001166420.2:c.419G>T NP_001159892.1:p.Gly140Val
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