Canonical Allele Identifier: CA413640347

Gene: HDAC8

Linked Data

• ClinVar Variation Id: 1326495
• ClinVar RCV Id: RCV001786675
• dbSNP Id: rs2148144542
• MyVariant Identifiers: chrX:g.71715116T>C (hg19) ; chrX:g.72495266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72495266T>C , CM000685.2:g.72495266T>C	GRCh38
NC_000023.10:g.71715116T>C , CM000685.1:g.71715116T>C	GRCh37
NC_000023.9:g.71631841T>C	NCBI36
NG_015851.1:g.82838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373560.7:c.438-20537A>G	ENSP00000362661.2:n.438-20537A>G
ENST00000373568.7:c.440A>G	ENSP00000362669.3:p.Asp147Gly
ENST00000373571.6:c.440A>G	ENSP00000362672.1:p.Asp147Gly
ENST00000373573.9:c.440A>G MANE Select	ENSP00000362674.3:p.Asp147Gly
ENST00000373583.6:c.440A>G	ENSP00000362685.2:p.Asp147Gly
ENST00000373589.9:c.167A>G	ENSP00000362691.4:p.Asp56Gly
ENST00000412342.6:c.*138A>G	ENSP00000400180.1:n.*138A>G
ENST00000415409.6:c.440A>G	ENSP00000396424.2:p.Asp147Gly
ENST00000421523.6:c.281A>G	ENSP00000398997.2:p.Asp94Gly
ENST00000436675.6:c.440A>G	ENSP00000416489.1:p.Asp147Gly
ENST00000439122.7:c.440A>G	ENSP00000414486.2:p.Asp147Gly
ENST00000478743.2:n.526A>G
ENST00000647594.1:c.440A>G	ENSP00000496814.1:p.Asp147Gly
ENST00000647606.1:c.215A>G
ENST00000647613.1:c.*271A>G	ENSP00000497911.1:n.*271A>G
ENST00000647641.1:n.527A>G
ENST00000647654.1:c.167A>G	ENSP00000497568.1:p.Asp56Gly
ENST00000647718.1:n.495A>G
ENST00000647859.1:c.440A>G	ENSP00000497530.1:p.Asp147Gly
ENST00000647886.1:c.440A>G	ENSP00000497188.1:p.Asp147Gly
ENST00000647974.1:c.184A>G
ENST00000647980.1:c.440A>G	ENSP00000498002.1:p.Asp147Gly
ENST00000648036.1:c.440A>G	ENSP00000496994.1:p.Asp147Gly
ENST00000648101.1:n.520A>G
ENST00000648139.1:c.438-30535A>G	ENSP00000496818.1:n.438-30535A>G
ENST00000648285.1:n.223A>G
ENST00000648298.1:c.440A>G	ENSP00000496866.1:p.Asp147Gly
ENST00000648452.1:c.440A>G	ENSP00000497268.1:p.Asp147Gly
ENST00000648459.1:c.135-30535A>G	ENSP00000498072.1:n.135-30535A>G
ENST00000648504.1:c.377A>G	ENSP00000497668.1:p.Asp126Gly
ENST00000648577.1:c.440A>G	ENSP00000497552.1:p.Asp147Gly
ENST00000648711.1:c.65A>G	ENSP00000498040.1:p.Asp22Gly
ENST00000648731.1:c.360A>G
ENST00000648834.1:c.440A>G	ENSP00000497764.1:p.Asp147Gly
ENST00000648855.1:n.364A>G
ENST00000648870.1:c.440A>G	ENSP00000497599.1:p.Asp147Gly
ENST00000648922.1:c.440A>G	ENSP00000497072.1:p.Asp147Gly
ENST00000648939.1:c.440A>G	ENSP00000497442.1:p.Asp147Gly
ENST00000648962.1:c.440A>G	ENSP00000497516.1:p.Asp147Gly
ENST00000649097.1:c.440A>G	ENSP00000497551.1:p.Asp147Gly
ENST00000649116.1:c.438A>G	ENSP00000497925.1:p.Lys146=
ENST00000649181.1:c.438-4260A>G	ENSP00000498150.1:n.438-4260A>G
ENST00000649242.1:c.440A>G	ENSP00000497943.1:p.Asp147Gly
ENST00000649274.1:c.378A>G	ENSP00000497032.1:n.378A>G
ENST00000649518.1:c.440A>G	ENSP00000498169.1:p.Asp147Gly
ENST00000649543.1:c.440A>G	ENSP00000496826.1:p.Asp147Gly
ENST00000649752.1:c.167A>G	ENSP00000497267.1:p.Asp56Gly
ENST00000650126.1:c.440A>G	ENSP00000498144.1:p.Asp147Gly
ENST00000650471.1:c.298A>G	ENSP00000498027.1:p.Met100Val
ENST00000650604.1:c.165-30535A>G	ENSP00000497105.1:n.165-30535A>G
ENST00000373559.8:c.167A>G	ENSP00000362660.4:p.Asp56Gly
ENST00000373560.6:c.438-20537A>G	ENSP00000362661.2:n.438-20537A>G
ENST00000373568.6:c.167A>G	ENSP00000362669.2:p.Asp56Gly
ENST00000373571.5:c.440A>G	ENSP00000362672.1:p.Asp147Gly
ENST00000373573.7:c.440A>G	ENSP00000362674.3:p.Asp147Gly
ENST00000373583.5:c.164+76791A>G	ENSP00000362685.1:n.164+76791A>G
ENST00000373589.8:c.167A>G	ENSP00000362691.4:p.Asp56Gly
ENST00000412342.5:c.*138A>G	ENSP00000400180.1:n.*138A>G
ENST00000415409.5:c.440A>G	ENSP00000396424.1:p.Asp147Gly
ENST00000421523.5:c.323A>G	ENSP00000398997.1:p.Asp108Gly
ENST00000436675.5:c.440A>G	ENSP00000416489.1:p.Asp147Gly
ENST00000439122.6:c.440A>G	ENSP00000414486.2:p.Asp147Gly
ENST00000478743.1:n.380A>G
NM_001166418.1:c.167A>G	NP_001159890.1:p.Asp56Gly
NM_001166419.1:c.440A>G	NP_001159891.1:p.Asp147Gly
NM_001166448.1:c.167A>G	NP_001159920.1:p.Asp56Gly
NM_018486.2:c.440A>G	NP_060956.1:p.Asp147Gly
NR_051952.1:n.640A>G
XM_011530986.1:c.440A>G	XP_011529288.1:p.Asp147Gly
XM_011530987.1:c.440A>G	XP_011529289.1:p.Asp147Gly
XM_011530988.1:c.440A>G	XP_011529290.1:p.Asp147Gly
XR_938402.1:n.526A>G
XM_011530986.3:c.440A>G	XP_011529288.3:p.Asp147Gly
XM_017029640.2:c.440A>G	XP_016885129.2:p.Asp147Gly
XM_017029641.2:c.440A>G	XP_016885130.2:p.Asp147Gly
XM_017029642.1:c.281A>G	XP_016885131.1:p.Asp94Gly
XM_017029643.2:c.552-30535A>G	XP_016885132.1:n.552-30535A>G
XM_017029644.2:c.281A>G	XP_016885133.1:p.Asp94Gly
XM_017029645.2:c.552-30535A>G	XP_016885134.1:n.552-30535A>G
XM_017029646.1:c.53A>G	XP_016885135.1:p.Asp18Gly
XM_017029647.2:c.440A>G	XP_016885136.2:p.Asp147Gly
XM_024452405.1:c.-332A>G	XP_024308173.1:n.-332A>G
XR_001755711.2:n.526A>G
XR_002958779.1:n.526A>G
XR_002958780.1:n.526A>G
XR_002958781.1:n.526A>G
XR_002958782.1:n.502A>G
XR_002958783.1:n.502A>G
XR_938402.3:n.526A>G
NM_018486.3:c.440A>G MANE Select	NP_060956.1:p.Asp147Gly
NM_001166418.2:c.167A>G	NP_001159890.1:p.Asp56Gly
NM_001166419.2:c.440A>G	NP_001159891.1:p.Asp147Gly
NM_001166448.2:c.167A>G	NP_001159920.1:p.Asp56Gly
NR_051952.2:n.380A>G