Canonical Allele Identifier: CA10450208

Gene: HDAC8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72489030C>T , CM000685.2:g.72489030C>T	GRCh38
NC_000023.10:g.71708880C>T , CM000685.1:g.71708880C>T	GRCh37
NC_000023.9:g.71625605C>T	NCBI36
NG_015851.1:g.89074G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018486.3:c.640G>A MANE Select	NP_060956.1:p.Val214Met
ENST00000373573.9:c.640G>A MANE Select	ENSP00000362674.3:p.Val214Met
NM_001166418.1:c.367G>A	NP_001159890.1:p.Val123Met
NM_001166418.2:c.367G>A	NP_001159890.1:p.Val123Met
NM_001166419.1:c.640G>A	NP_001159891.1:p.Val214Met
NM_001166419.2:c.640G>A	NP_001159891.1:p.Val214Met
NM_001166448.1:c.289G>A	NP_001159920.1:p.Val97Met
NM_001166448.2:c.289G>A	NP_001159920.1:p.Val97Met
NM_018486.2:c.640G>A	NP_060956.1:p.Val214Met
NR_051952.1:n.840G>A
NR_051952.2:n.580G>A
ENST00000373559.8:c.289G>A	ENSP00000362660.4:p.Val97Met
ENST00000373560.6:c.438-14301G>A	ENSP00000362661.2:n.438-14301G>A
ENST00000373560.7:c.438-14301G>A	ENSP00000362661.2:n.438-14301G>A
ENST00000373568.6:c.367G>A	ENSP00000362669.2:p.Val123Met
ENST00000373568.7:c.640G>A	ENSP00000362669.3:p.Val214Met
ENST00000373571.5:c.640G>A	ENSP00000362672.1:p.Val214Met
ENST00000373571.6:c.640G>A	ENSP00000362672.1:p.Val214Met
ENST00000373573.7:c.640G>A	ENSP00000362674.3:p.Val214Met
ENST00000373583.5:c.164+83027G>A	ENSP00000362685.1:n.164+83027G>A
ENST00000373583.6:c.562G>A	ENSP00000362685.2:p.Val188Met
ENST00000373589.8:c.367G>A	ENSP00000362691.4:p.Val123Met
ENST00000373589.9:c.367G>A	ENSP00000362691.4:p.Val123Met
ENST00000412342.5:c.*338G>A	ENSP00000400180.1:n.*338G>A
ENST00000412342.6:c.*338G>A	ENSP00000400180.1:n.*338G>A
ENST00000415409.5:c.562G>A	ENSP00000396424.1:p.Val188Met
ENST00000415409.6:c.640G>A	ENSP00000396424.2:p.Val214Met
ENST00000436675.5:c.550+6126G>A	ENSP00000416489.1:n.550+6126G>A
ENST00000436675.6:c.550+6126G>A	ENSP00000416489.1:n.550+6126G>A
ENST00000439122.6:c.640G>A	ENSP00000414486.2:p.Val214Met
ENST00000439122.7:c.640G>A	ENSP00000414486.2:p.Val214Met
ENST00000478743.2:n.726G>A
ENST00000647594.1:c.640G>A	ENSP00000496814.1:p.Val214Met
ENST00000647606.1:c.415G>A
ENST00000647613.1:c.*393G>A	ENSP00000497911.1:n.*393G>A
ENST00000647641.1:n.727G>A
ENST00000647654.1:c.367G>A	ENSP00000497568.1:p.Val123Met
ENST00000647718.1:n.695G>A
ENST00000647859.1:c.640G>A	ENSP00000497530.1:p.Val214Met
ENST00000647886.1:c.640G>A	ENSP00000497188.1:p.Val214Met
ENST00000647974.1:c.384G>A
ENST00000647980.1:c.634G>A	ENSP00000498002.1:p.Val212Met
ENST00000648036.1:c.634G>A	ENSP00000496994.1:p.Val212Met
ENST00000648139.1:c.438-24299G>A	ENSP00000496818.1:n.438-24299G>A
ENST00000648285.1:n.423G>A
ENST00000648298.1:c.640G>A	ENSP00000496866.1:p.Val214Met
ENST00000648452.1:c.640G>A	ENSP00000497268.1:p.Val214Met
ENST00000648459.1:c.135-24299G>A	ENSP00000498072.1:n.135-24299G>A
ENST00000648504.1:c.577G>A	ENSP00000497668.1:p.Val193Met
ENST00000648577.1:c.*244G>A	ENSP00000497552.1:n.*244G>A
ENST00000648711.1:c.265G>A	ENSP00000498040.1:p.Val89Met
ENST00000648731.1:c.746G>A
ENST00000648834.1:c.640G>A	ENSP00000497764.1:p.Val214Met
ENST00000648850.1:c.275G>A
ENST00000648855.1:n.564G>A
ENST00000648870.1:c.640G>A	ENSP00000497599.1:p.Val214Met
ENST00000648922.1:c.640G>A	ENSP00000497072.1:p.Val214Met
ENST00000648939.1:c.640G>A	ENSP00000497442.1:p.Val214Met
ENST00000648962.1:c.550+6126G>A	ENSP00000497516.1:n.550+6126G>A
ENST00000649097.1:c.640G>A	ENSP00000497551.1:p.Val214Met
ENST00000649116.1:c.*197G>A	ENSP00000497925.1:n.*197G>A
ENST00000649181.1:c.*2G>A	ENSP00000498150.1:n.*2G>A
ENST00000649242.1:c.*244G>A	ENSP00000497943.1:n.*244G>A
ENST00000649274.1:c.578G>A	ENSP00000497032.1:n.578G>A
ENST00000649518.1:c.*244G>A	ENSP00000498169.1:n.*244G>A
ENST00000649543.1:c.*244G>A	ENSP00000496826.1:n.*244G>A
ENST00000649752.1:c.367G>A	ENSP00000497267.1:p.Val123Met
ENST00000650076.1:c.114G>A
ENST00000650126.1:c.562G>A	ENSP00000498144.1:p.Val188Met
ENST00000650471.1:c.*84G>A	ENSP00000498027.1:n.*84G>A
ENST00000650604.1:c.165-24299G>A	ENSP00000497105.1:n.165-24299G>A
XM_011530986.1:c.640G>A	XP_011529288.1:p.Val214Met
XM_011530986.3:c.640G>A	XP_011529288.3:p.Val214Met
XM_011530987.1:c.640G>A	XP_011529289.1:p.Val214Met
XM_011530988.1:c.640G>A	XP_011529290.1:p.Val214Met
XM_017029640.2:c.562G>A	XP_016885129.2:p.Val188Met
XM_017029641.2:c.562G>A	XP_016885130.2:p.Val188Met
XM_017029642.1:c.481G>A	XP_016885131.1:p.Val161Met
XM_017029643.2:c.552-24299G>A	XP_016885132.1:n.552-24299G>A
XM_017029644.2:c.403G>A	XP_016885133.1:p.Val135Met
XM_017029645.2:c.552-24299G>A	XP_016885134.1:n.552-24299G>A
XM_017029646.1:c.253G>A	XP_016885135.1:p.Val85Met
XM_017029647.2:c.562G>A	XP_016885136.2:p.Val188Met
XM_024452405.1:c.55G>A	XP_024308173.1:p.Val19Met
XR_001755711.2:n.726G>A
XR_002958779.1:n.726G>A
XR_002958780.1:n.726G>A
XR_002958781.1:n.726G>A
XR_002958782.1:n.702G>A
XR_002958783.1:n.702G>A
XR_938402.1:n.726G>A
XR_938402.3:n.726G>A