Canonical Allele Identifier: CA413574534

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71787836C>G (hg19) ; chrX:g.72567986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72567986C>G , CM000685.2:g.72567986C>G	GRCh38
NC_000023.10:g.71787836C>G , CM000685.1:g.71787836C>G	GRCh37
NC_000023.9:g.71704561C>G	NCBI36
NG_015851.1:g.10118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373554.6:c.340G>C	ENSP00000362655.1:p.Ala114Pro
ENST00000373556.8:c.340G>C	ENSP00000362657.3:p.Ala114Pro
ENST00000373560.7:c.340G>C	ENSP00000362661.2:p.Ala114Pro
ENST00000373568.7:c.340G>C	ENSP00000362669.3:p.Ala114Pro
ENST00000373571.6:c.340G>C	ENSP00000362672.1:p.Ala114Pro
ENST00000373573.9:c.340G>C MANE Select	ENSP00000362674.3:p.Ala114Pro
ENST00000373583.6:c.340G>C	ENSP00000362685.2:p.Ala114Pro
ENST00000373589.9:c.164+4071G>C	ENSP00000362691.4:n.164+4071G>C
ENST00000412342.6:c.*38G>C	ENSP00000400180.1:n.*38G>C
ENST00000415409.6:c.340G>C	ENSP00000396424.2:p.Ala114Pro
ENST00000421523.6:c.181G>C	ENSP00000398997.2:p.Ala61Pro
ENST00000436675.6:c.340G>C	ENSP00000416489.1:p.Ala114Pro
ENST00000439122.7:c.340G>C	ENSP00000414486.2:p.Ala114Pro
ENST00000478743.2:n.426G>C
ENST00000647594.1:c.340G>C	ENSP00000496814.1:p.Ala114Pro
ENST00000647606.1:c.83G>C
ENST00000647613.1:c.*171G>C	ENSP00000497911.1:n.*171G>C
ENST00000647641.1:n.427G>C
ENST00000647654.1:c.164+4071G>C	ENSP00000497568.1:n.164+4071G>C
ENST00000647718.1:n.395G>C
ENST00000647859.1:c.340G>C	ENSP00000497530.1:p.Ala114Pro
ENST00000647886.1:c.340G>C	ENSP00000497188.1:p.Ala114Pro
ENST00000647974.1:c.84G>C
ENST00000647980.1:c.340G>C	ENSP00000498002.1:p.Ala114Pro
ENST00000648036.1:c.340G>C	ENSP00000496994.1:p.Ala114Pro
ENST00000648101.1:n.420G>C
ENST00000648139.1:c.340G>C	ENSP00000496818.1:p.Ala114Pro
ENST00000648285.1:n.220+4071G>C
ENST00000648298.1:c.340G>C	ENSP00000496866.1:p.Ala114Pro
ENST00000648452.1:c.340G>C	ENSP00000497268.1:p.Ala114Pro
ENST00000648459.1:c.37G>C	ENSP00000498072.1:p.Ala13Pro
ENST00000648504.1:c.277G>C	ENSP00000497668.1:p.Ala93Pro
ENST00000648577.1:c.340G>C	ENSP00000497552.1:p.Ala114Pro
ENST00000648711.1:c.62+4071G>C	ENSP00000498040.1:n.62+4071G>C
ENST00000648731.1:c.260G>C
ENST00000648834.1:c.340G>C	ENSP00000497764.1:p.Ala114Pro
ENST00000648855.1:n.264G>C
ENST00000648870.1:c.340G>C	ENSP00000497599.1:p.Ala114Pro
ENST00000648922.1:c.340G>C	ENSP00000497072.1:p.Ala114Pro
ENST00000648939.1:c.340G>C	ENSP00000497442.1:p.Ala114Pro
ENST00000648962.1:c.340G>C	ENSP00000497516.1:p.Ala114Pro
ENST00000649097.1:c.340G>C	ENSP00000497551.1:p.Ala114Pro
ENST00000649116.1:c.340G>C	ENSP00000497925.1:p.Ala114Pro
ENST00000649181.1:c.340G>C	ENSP00000498150.1:p.Ala114Pro
ENST00000649242.1:c.340G>C	ENSP00000497943.1:p.Ala114Pro
ENST00000649274.1:c.278G>C	ENSP00000497032.1:n.278G>C
ENST00000649518.1:c.340G>C	ENSP00000498169.1:p.Ala114Pro
ENST00000649543.1:c.340G>C	ENSP00000496826.1:p.Ala114Pro
ENST00000649752.1:c.164+4071G>C	ENSP00000497267.1:n.164+4071G>C
ENST00000650126.1:c.340G>C	ENSP00000498144.1:p.Ala114Pro
ENST00000650471.1:c.295+768G>C	ENSP00000498027.1:n.295+768G>C
ENST00000650604.1:c.164+4071G>C	ENSP00000497105.1:n.164+4071G>C
ENST00000650636.1:c.340G>C	ENSP00000497191.1:p.Ala114Pro
ENST00000373554.5:c.340G>C	ENSP00000362655.1:p.Ala114Pro
ENST00000373556.7:c.340G>C	ENSP00000362657.3:p.Ala114Pro
ENST00000373559.8:c.164+4071G>C	ENSP00000362660.4:n.164+4071G>C
ENST00000373560.6:c.340G>C	ENSP00000362661.2:p.Ala114Pro
ENST00000373568.6:c.164+4071G>C	ENSP00000362669.2:n.164+4071G>C
ENST00000373571.5:c.340G>C	ENSP00000362672.1:p.Ala114Pro
ENST00000373573.7:c.340G>C	ENSP00000362674.3:p.Ala114Pro
ENST00000373583.5:c.164+4071G>C	ENSP00000362685.1:n.164+4071G>C
ENST00000373589.8:c.164+4071G>C	ENSP00000362691.4:n.164+4071G>C
ENST00000412342.5:c.*38G>C	ENSP00000400180.1:n.*38G>C
ENST00000415409.5:c.340G>C	ENSP00000396424.1:p.Ala114Pro
ENST00000421523.5:c.223G>C	ENSP00000398997.1:p.Ala75Pro
ENST00000436675.5:c.340G>C	ENSP00000416489.1:p.Ala114Pro
ENST00000439122.6:c.340G>C	ENSP00000414486.2:p.Ala114Pro
ENST00000478743.1:n.377+768G>C
NM_001166418.1:c.164+4071G>C	NP_001159890.1:n.164+4071G>C
NM_001166419.1:c.340G>C	NP_001159891.1:p.Ala114Pro
NM_001166420.1:c.340G>C	NP_001159892.1:p.Ala114Pro
NM_001166422.1:c.340G>C	NP_001159894.1:p.Ala114Pro
NM_001166448.1:c.164+4071G>C	NP_001159920.1:n.164+4071G>C
NM_018486.2:c.340G>C	NP_060956.1:p.Ala114Pro
NR_051952.1:n.637+768G>C
XM_011530986.1:c.340G>C	XP_011529288.1:p.Ala114Pro
XM_011530987.1:c.340G>C	XP_011529289.1:p.Ala114Pro
XM_011530988.1:c.340G>C	XP_011529290.1:p.Ala114Pro
XR_938402.1:n.426G>C
XM_011530986.3:c.340G>C	XP_011529288.3:p.Ala114Pro
XM_017029640.2:c.340G>C	XP_016885129.2:p.Ala114Pro
XM_017029641.2:c.340G>C	XP_016885130.2:p.Ala114Pro
XM_017029642.1:c.278+4071G>C	XP_016885131.1:n.278+4071G>C
XM_017029643.2:c.454G>C	XP_016885132.1:p.Ala152Pro
XM_017029644.2:c.278+4071G>C	XP_016885133.1:n.278+4071G>C
XM_017029645.2:c.454G>C	XP_016885134.1:p.Ala152Pro
XM_017029646.1:c.-48G>C	XP_016885135.1:n.-48G>C
XM_017029647.2:c.340G>C	XP_016885136.2:p.Ala114Pro
XM_024452405.1:c.-432G>C	XP_024308173.1:n.-432G>C
XR_001755711.2:n.426G>C
XR_002958779.1:n.426G>C
XR_002958780.1:n.426G>C
XR_002958781.1:n.426G>C
XR_002958782.1:n.499+4071G>C
XR_002958783.1:n.499+4071G>C
XR_938402.3:n.426G>C
NM_018486.3:c.340G>C MANE Select	NP_060956.1:p.Ala114Pro
NM_001166418.2:c.164+4071G>C	NP_001159890.1:n.164+4071G>C
NM_001166419.2:c.340G>C	NP_001159891.1:p.Ala114Pro
NM_001166422.2:c.340G>C	NP_001159894.1:p.Ala114Pro
NM_001166448.2:c.164+4071G>C	NP_001159920.1:n.164+4071G>C
NR_051952.2:n.377+768G>C
NM_001166420.2:c.340G>C	NP_001159892.1:p.Ala114Pro