Canonical Allele Identifier: CA413640068

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71715039G>T (hg19) ; chrX:g.72495189G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72495189G>T , CM000685.2:g.72495189G>T	GRCh38
NC_000023.10:g.71715039G>T , CM000685.1:g.71715039G>T	GRCh37
NC_000023.9:g.71631764G>T	NCBI36
NG_015851.1:g.82915C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373560.7:c.438-20460C>A	ENSP00000362661.2:n.438-20460C>A
ENST00000373568.7:c.517C>A	ENSP00000362669.3:p.Leu173Ile
ENST00000373571.6:c.517C>A	ENSP00000362672.1:p.Leu173Ile
ENST00000373573.9:c.517C>A MANE Select	ENSP00000362674.3:p.Leu173Ile
ENST00000373583.6:c.517C>A	ENSP00000362685.2:p.Leu173Ile
ENST00000373589.9:c.244C>A	ENSP00000362691.4:p.Leu82Ile
ENST00000412342.6:c.*215C>A	ENSP00000400180.1:n.*215C>A
ENST00000415409.6:c.517C>A	ENSP00000396424.2:p.Leu173Ile
ENST00000421523.6:c.358C>A	ENSP00000398997.2:p.Leu120Ile
ENST00000436675.6:c.517C>A	ENSP00000416489.1:p.Leu173Ile
ENST00000439122.7:c.517C>A	ENSP00000414486.2:p.Leu173Ile
ENST00000478743.2:n.603C>A
ENST00000647594.1:c.517C>A	ENSP00000496814.1:p.Leu173Ile
ENST00000647606.1:c.292C>A
ENST00000647613.1:c.*348C>A	ENSP00000497911.1:n.*348C>A
ENST00000647641.1:n.604C>A
ENST00000647654.1:c.244C>A	ENSP00000497568.1:p.Leu82Ile
ENST00000647718.1:n.572C>A
ENST00000647859.1:c.517C>A	ENSP00000497530.1:p.Leu173Ile
ENST00000647886.1:c.517C>A	ENSP00000497188.1:p.Leu173Ile
ENST00000647974.1:c.261C>A
ENST00000647980.1:c.517C>A	ENSP00000498002.1:p.Leu173Ile
ENST00000648036.1:c.517C>A	ENSP00000496994.1:p.Leu173Ile
ENST00000648139.1:c.438-30458C>A	ENSP00000496818.1:n.438-30458C>A
ENST00000648285.1:n.300C>A
ENST00000648298.1:c.517C>A	ENSP00000496866.1:p.Leu173Ile
ENST00000648452.1:c.517C>A	ENSP00000497268.1:p.Leu173Ile
ENST00000648459.1:c.135-30458C>A	ENSP00000498072.1:n.135-30458C>A
ENST00000648504.1:c.454C>A	ENSP00000497668.1:p.Leu152Ile
ENST00000648577.1:c.517C>A	ENSP00000497552.1:p.Leu173Ile
ENST00000648711.1:c.142C>A	ENSP00000498040.1:p.Leu48Ile
ENST00000648731.1:c.437C>A
ENST00000648834.1:c.517C>A	ENSP00000497764.1:p.Leu173Ile
ENST00000648855.1:n.441C>A
ENST00000648870.1:c.517C>A	ENSP00000497599.1:p.Leu173Ile
ENST00000648922.1:c.517C>A	ENSP00000497072.1:p.Leu173Ile
ENST00000648939.1:c.517C>A	ENSP00000497442.1:p.Leu173Ile
ENST00000648962.1:c.517C>A	ENSP00000497516.1:p.Leu173Ile
ENST00000649097.1:c.517C>A	ENSP00000497551.1:p.Leu173Ile
ENST00000649116.1:c.*74C>A	ENSP00000497925.1:n.*74C>A
ENST00000649181.1:c.438-4183C>A	ENSP00000498150.1:n.438-4183C>A
ENST00000649242.1:c.517C>A	ENSP00000497943.1:p.Leu173Ile
ENST00000649274.1:c.455C>A	ENSP00000497032.1:n.455C>A
ENST00000649518.1:c.517C>A	ENSP00000498169.1:p.Leu173Ile
ENST00000649543.1:c.517C>A	ENSP00000496826.1:p.Leu173Ile
ENST00000649752.1:c.244C>A	ENSP00000497267.1:p.Leu82Ile
ENST00000650126.1:c.517C>A	ENSP00000498144.1:p.Leu173Ile
ENST00000650471.1:c.375C>A	ENSP00000498027.1:p.Phe125Leu
ENST00000650604.1:c.165-30458C>A	ENSP00000497105.1:n.165-30458C>A
ENST00000373559.8:c.244C>A	ENSP00000362660.4:p.Leu82Ile
ENST00000373560.6:c.438-20460C>A	ENSP00000362661.2:n.438-20460C>A
ENST00000373568.6:c.244C>A	ENSP00000362669.2:p.Leu82Ile
ENST00000373571.5:c.517C>A	ENSP00000362672.1:p.Leu173Ile
ENST00000373573.7:c.517C>A	ENSP00000362674.3:p.Leu173Ile
ENST00000373583.5:c.164+76868C>A	ENSP00000362685.1:n.164+76868C>A
ENST00000373589.8:c.244C>A	ENSP00000362691.4:p.Leu82Ile
ENST00000412342.5:c.*215C>A	ENSP00000400180.1:n.*215C>A
ENST00000415409.5:c.517C>A	ENSP00000396424.1:p.Leu173Ile
ENST00000436675.5:c.517C>A	ENSP00000416489.1:p.Leu173Ile
ENST00000439122.6:c.517C>A	ENSP00000414486.2:p.Leu173Ile
ENST00000478743.1:n.457C>A
NM_001166418.1:c.244C>A	NP_001159890.1:p.Leu82Ile
NM_001166419.1:c.517C>A	NP_001159891.1:p.Leu173Ile
NM_001166448.1:c.244C>A	NP_001159920.1:p.Leu82Ile
NM_018486.2:c.517C>A	NP_060956.1:p.Leu173Ile
NR_051952.1:n.717C>A
XM_011530986.1:c.517C>A	XP_011529288.1:p.Leu173Ile
XM_011530987.1:c.517C>A	XP_011529289.1:p.Leu173Ile
XM_011530988.1:c.517C>A	XP_011529290.1:p.Leu173Ile
XR_938402.1:n.603C>A
XM_011530986.3:c.517C>A	XP_011529288.3:p.Leu173Ile
XM_017029640.2:c.517C>A	XP_016885129.2:p.Leu173Ile
XM_017029641.2:c.517C>A	XP_016885130.2:p.Leu173Ile
XM_017029642.1:c.358C>A	XP_016885131.1:p.Leu120Ile
XM_017029643.2:c.552-30458C>A	XP_016885132.1:n.552-30458C>A
XM_017029644.2:c.358C>A	XP_016885133.1:p.Leu120Ile
XM_017029645.2:c.552-30458C>A	XP_016885134.1:n.552-30458C>A
XM_017029646.1:c.130C>A	XP_016885135.1:p.Leu44Ile
XM_017029647.2:c.517C>A	XP_016885136.2:p.Leu173Ile
XM_024452405.1:c.-255C>A	XP_024308173.1:n.-255C>A
XR_001755711.2:n.603C>A
XR_002958779.1:n.603C>A
XR_002958780.1:n.603C>A
XR_002958781.1:n.603C>A
XR_002958782.1:n.579C>A
XR_002958783.1:n.579C>A
XR_938402.3:n.603C>A
NM_018486.3:c.517C>A MANE Select	NP_060956.1:p.Leu173Ile
NM_001166418.2:c.244C>A	NP_001159890.1:p.Leu82Ile
NM_001166419.2:c.517C>A	NP_001159891.1:p.Leu173Ile
NM_001166448.2:c.244C>A	NP_001159920.1:p.Leu82Ile
NR_051952.2:n.457C>A