Canonical Allele Identifier: CA413642746

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684424G>T (hg19) ; chrX:g.72464574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464574G>T , CM000685.2:g.72464574G>T	GRCh38
NC_000023.10:g.71684424G>T , CM000685.1:g.71684424G>T	GRCh37
NC_000023.9:g.71601149G>T	NCBI36
NG_015851.1:g.113530C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.895C>A	ENSP00000362669.3:p.Leu299Ile
ENST00000373573.9:c.895C>A MANE Select	ENSP00000362674.3:p.Leu299Ile
ENST00000373583.6:c.817C>A	ENSP00000362685.2:p.Leu273Ile
ENST00000373589.9:c.622C>A	ENSP00000362691.4:p.Leu208Ile
ENST00000415409.6:c.895C>A	ENSP00000396424.2:p.Leu299Ile
ENST00000436675.6:c.*150C>A	ENSP00000416489.1:n.*150C>A
ENST00000478743.2:n.981C>A
ENST00000647594.1:c.895C>A	ENSP00000496814.1:p.Leu299Ile
ENST00000647606.1:c.670C>A
ENST00000647613.1:c.*648C>A	ENSP00000497911.1:n.*648C>A
ENST00000647641.1:n.982C>A
ENST00000647654.1:c.622C>A	ENSP00000497568.1:p.Leu208Ile
ENST00000647718.1:n.950C>A
ENST00000647859.1:c.895C>A	ENSP00000497530.1:p.Leu299Ile
ENST00000647886.1:c.895C>A	ENSP00000497188.1:p.Leu299Ile
ENST00000647980.1:c.889C>A	ENSP00000498002.1:p.Leu297Ile
ENST00000648139.1:c.595C>A	ENSP00000496818.1:p.Leu199Ile
ENST00000648276.1:c.139C>A	ENSP00000497619.1:p.Leu47Ile
ENST00000648285.1:n.678C>A
ENST00000648298.1:c.895C>A	ENSP00000496866.1:p.Leu299Ile
ENST00000648452.1:c.895C>A	ENSP00000497268.1:p.Leu299Ile
ENST00000648459.1:c.292C>A	ENSP00000498072.1:p.Leu98Ile
ENST00000648504.1:c.832C>A	ENSP00000497668.1:p.Leu278Ile
ENST00000648711.1:c.520C>A	ENSP00000498040.1:p.Leu174Ile
ENST00000648731.1:c.1001C>A
ENST00000648834.1:c.895C>A	ENSP00000497764.1:p.Leu299Ile
ENST00000648850.1:c.530C>A
ENST00000648855.1:n.819C>A
ENST00000648870.1:c.895C>A	ENSP00000497599.1:p.Leu299Ile
ENST00000648922.1:c.895C>A	ENSP00000497072.1:p.Leu299Ile
ENST00000648939.1:c.895C>A	ENSP00000497442.1:p.Leu299Ile
ENST00000649097.1:c.895C>A	ENSP00000497551.1:p.Leu299Ile
ENST00000649116.1:c.*452C>A	ENSP00000497925.1:n.*452C>A
ENST00000649181.1:c.*257C>A	ENSP00000498150.1:n.*257C>A
ENST00000649242.1:c.*499C>A	ENSP00000497943.1:n.*499C>A
ENST00000649274.1:c.833C>A	ENSP00000497032.1:n.833C>A
ENST00000649518.1:c.*499C>A	ENSP00000498169.1:n.*499C>A
ENST00000649543.1:c.*499C>A	ENSP00000496826.1:n.*499C>A
ENST00000649752.1:c.622C>A	ENSP00000497267.1:p.Leu208Ile
ENST00000650076.1:c.211+24359C>A
ENST00000650471.1:c.*339C>A	ENSP00000498027.1:n.*339C>A
ENST00000650604.1:c.322C>A	ENSP00000497105.1:p.Leu108Ile
ENST00000373568.6:c.622C>A	ENSP00000362669.2:p.Leu208Ile
ENST00000373573.7:c.895C>A	ENSP00000362674.3:p.Leu299Ile
ENST00000373583.5:c.164+107483C>A	ENSP00000362685.1:n.164+107483C>A
ENST00000373589.8:c.622C>A	ENSP00000362691.4:p.Leu208Ile
ENST00000415409.5:c.817C>A	ENSP00000396424.1:p.Leu273Ile
ENST00000436675.5:c.*150C>A	ENSP00000416489.1:n.*150C>A
NM_001166418.1:c.622C>A	NP_001159890.1:p.Leu208Ile
NM_018486.2:c.895C>A	NP_060956.1:p.Leu299Ile
NR_051952.1:n.1095C>A
XM_011530986.1:c.895C>A	XP_011529288.1:p.Leu299Ile
XM_011530987.1:c.895C>A	XP_011529289.1:p.Leu299Ile
XM_011530988.1:c.895C>A	XP_011529290.1:p.Leu299Ile
XR_938402.1:n.981C>A
XM_011530986.3:c.895C>A	XP_011529288.3:p.Leu299Ile
XM_017029640.2:c.817C>A	XP_016885129.2:p.Leu273Ile
XM_017029641.2:c.817C>A	XP_016885130.2:p.Leu273Ile
XM_017029642.1:c.736C>A	XP_016885131.1:p.Leu246Ile
XM_017029643.2:c.709C>A	XP_016885132.1:p.Leu237Ile
XM_017029644.2:c.658C>A	XP_016885133.1:p.Leu220Ile
XM_017029645.2:c.709C>A	XP_016885134.1:p.Leu237Ile
XM_017029646.1:c.508C>A	XP_016885135.1:p.Leu170Ile
XM_024452405.1:c.310C>A	XP_024308173.1:p.Leu104Ile
XR_001755711.2:n.981C>A
XR_002958779.1:n.981C>A
XR_002958780.1:n.981C>A
XR_002958781.1:n.981C>A
XR_002958782.1:n.957C>A
XR_002958783.1:n.957C>A
XR_938402.3:n.981C>A
NM_018486.3:c.895C>A MANE Select	NP_060956.1:p.Leu299Ile
NM_001166418.2:c.622C>A	NP_001159890.1:p.Leu208Ile
NR_051952.2:n.835C>A