Canonical Allele Identifier: CA413640150

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71715063A>C (hg19) ; chrX:g.72495213A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72495213A>C , CM000685.2:g.72495213A>C	GRCh38
NC_000023.10:g.71715063A>C , CM000685.1:g.71715063A>C	GRCh37
NC_000023.9:g.71631788A>C	NCBI36
NG_015851.1:g.82891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373560.7:c.438-20484T>G	ENSP00000362661.2:n.438-20484T>G
ENST00000373568.7:c.493T>G	ENSP00000362669.3:p.Leu165Val
ENST00000373571.6:c.493T>G	ENSP00000362672.1:p.Leu165Val
ENST00000373573.9:c.493T>G MANE Select	ENSP00000362674.3:p.Leu165Val
ENST00000373583.6:c.493T>G	ENSP00000362685.2:p.Leu165Val
ENST00000373589.9:c.220T>G	ENSP00000362691.4:p.Leu74Val
ENST00000412342.6:c.*191T>G	ENSP00000400180.1:n.*191T>G
ENST00000415409.6:c.493T>G	ENSP00000396424.2:p.Leu165Val
ENST00000421523.6:c.334T>G	ENSP00000398997.2:p.Leu112Val
ENST00000436675.6:c.493T>G	ENSP00000416489.1:p.Leu165Val
ENST00000439122.7:c.493T>G	ENSP00000414486.2:p.Leu165Val
ENST00000478743.2:n.579T>G
ENST00000647594.1:c.493T>G	ENSP00000496814.1:p.Leu165Val
ENST00000647606.1:c.268T>G
ENST00000647613.1:c.*324T>G	ENSP00000497911.1:n.*324T>G
ENST00000647641.1:n.580T>G
ENST00000647654.1:c.220T>G	ENSP00000497568.1:p.Leu74Val
ENST00000647718.1:n.548T>G
ENST00000647859.1:c.493T>G	ENSP00000497530.1:p.Leu165Val
ENST00000647886.1:c.493T>G	ENSP00000497188.1:p.Leu165Val
ENST00000647974.1:c.237T>G
ENST00000647980.1:c.493T>G	ENSP00000498002.1:p.Leu165Val
ENST00000648036.1:c.493T>G	ENSP00000496994.1:p.Leu165Val
ENST00000648101.1:n.573T>G
ENST00000648139.1:c.438-30482T>G	ENSP00000496818.1:n.438-30482T>G
ENST00000648285.1:n.276T>G
ENST00000648298.1:c.493T>G	ENSP00000496866.1:p.Leu165Val
ENST00000648452.1:c.493T>G	ENSP00000497268.1:p.Leu165Val
ENST00000648459.1:c.135-30482T>G	ENSP00000498072.1:n.135-30482T>G
ENST00000648504.1:c.430T>G	ENSP00000497668.1:p.Leu144Val
ENST00000648577.1:c.493T>G	ENSP00000497552.1:p.Leu165Val
ENST00000648711.1:c.118T>G	ENSP00000498040.1:p.Leu40Val
ENST00000648731.1:c.413T>G
ENST00000648834.1:c.493T>G	ENSP00000497764.1:p.Leu165Val
ENST00000648855.1:n.417T>G
ENST00000648870.1:c.493T>G	ENSP00000497599.1:p.Leu165Val
ENST00000648922.1:c.493T>G	ENSP00000497072.1:p.Leu165Val
ENST00000648939.1:c.493T>G	ENSP00000497442.1:p.Leu165Val
ENST00000648962.1:c.493T>G	ENSP00000497516.1:p.Leu165Val
ENST00000649097.1:c.493T>G	ENSP00000497551.1:p.Leu165Val
ENST00000649116.1:c.*50T>G	ENSP00000497925.1:n.*50T>G
ENST00000649181.1:c.438-4207T>G	ENSP00000498150.1:n.438-4207T>G
ENST00000649242.1:c.493T>G	ENSP00000497943.1:p.Leu165Val
ENST00000649274.1:c.431T>G	ENSP00000497032.1:n.431T>G
ENST00000649518.1:c.493T>G	ENSP00000498169.1:p.Leu165Val
ENST00000649543.1:c.493T>G	ENSP00000496826.1:p.Leu165Val
ENST00000649752.1:c.220T>G	ENSP00000497267.1:p.Leu74Val
ENST00000650126.1:c.493T>G	ENSP00000498144.1:p.Leu165Val
ENST00000650471.1:c.351T>G	ENSP00000498027.1:p.Asp117Glu
ENST00000650604.1:c.165-30482T>G	ENSP00000497105.1:n.165-30482T>G
ENST00000373559.8:c.220T>G	ENSP00000362660.4:p.Leu74Val
ENST00000373560.6:c.438-20484T>G	ENSP00000362661.2:n.438-20484T>G
ENST00000373568.6:c.220T>G	ENSP00000362669.2:p.Leu74Val
ENST00000373571.5:c.493T>G	ENSP00000362672.1:p.Leu165Val
ENST00000373573.7:c.493T>G	ENSP00000362674.3:p.Leu165Val
ENST00000373583.5:c.164+76844T>G	ENSP00000362685.1:n.164+76844T>G
ENST00000373589.8:c.220T>G	ENSP00000362691.4:p.Leu74Val
ENST00000412342.5:c.*191T>G	ENSP00000400180.1:n.*191T>G
ENST00000415409.5:c.493T>G	ENSP00000396424.1:p.Leu165Val
ENST00000421523.5:c.376T>G	ENSP00000398997.1:p.Leu126Val
ENST00000436675.5:c.493T>G	ENSP00000416489.1:p.Leu165Val
ENST00000439122.6:c.493T>G	ENSP00000414486.2:p.Leu165Val
ENST00000478743.1:n.433T>G
NM_001166418.1:c.220T>G	NP_001159890.1:p.Leu74Val
NM_001166419.1:c.493T>G	NP_001159891.1:p.Leu165Val
NM_001166448.1:c.220T>G	NP_001159920.1:p.Leu74Val
NM_018486.2:c.493T>G	NP_060956.1:p.Leu165Val
NR_051952.1:n.693T>G
XM_011530986.1:c.493T>G	XP_011529288.1:p.Leu165Val
XM_011530987.1:c.493T>G	XP_011529289.1:p.Leu165Val
XM_011530988.1:c.493T>G	XP_011529290.1:p.Leu165Val
XR_938402.1:n.579T>G
XM_011530986.3:c.493T>G	XP_011529288.3:p.Leu165Val
XM_017029640.2:c.493T>G	XP_016885129.2:p.Leu165Val
XM_017029641.2:c.493T>G	XP_016885130.2:p.Leu165Val
XM_017029642.1:c.334T>G	XP_016885131.1:p.Leu112Val
XM_017029643.2:c.552-30482T>G	XP_016885132.1:n.552-30482T>G
XM_017029644.2:c.334T>G	XP_016885133.1:p.Leu112Val
XM_017029645.2:c.552-30482T>G	XP_016885134.1:n.552-30482T>G
XM_017029646.1:c.106T>G	XP_016885135.1:p.Leu36Val
XM_017029647.2:c.493T>G	XP_016885136.2:p.Leu165Val
XM_024452405.1:c.-279T>G	XP_024308173.1:n.-279T>G
XR_001755711.2:n.579T>G
XR_002958779.1:n.579T>G
XR_002958780.1:n.579T>G
XR_002958781.1:n.579T>G
XR_002958782.1:n.555T>G
XR_002958783.1:n.555T>G
XR_938402.3:n.579T>G
NM_018486.3:c.493T>G MANE Select	NP_060956.1:p.Leu165Val
NM_001166418.2:c.220T>G	NP_001159890.1:p.Leu74Val
NM_001166419.2:c.493T>G	NP_001159891.1:p.Leu165Val
NM_001166448.2:c.220T>G	NP_001159920.1:p.Leu74Val
NR_051952.2:n.433T>G