Canonical Allele Identifier: CA413642737

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684423A>G (hg19) ; chrX:g.72464573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464573A>G , CM000685.2:g.72464573A>G	GRCh38
NC_000023.10:g.71684423A>G , CM000685.1:g.71684423A>G	GRCh37
NC_000023.9:g.71601148A>G	NCBI36
NG_015851.1:g.113531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.896T>C	ENSP00000362669.3:p.Leu299Pro
ENST00000373573.9:c.896T>C MANE Select	ENSP00000362674.3:p.Leu299Pro
ENST00000373583.6:c.818T>C	ENSP00000362685.2:p.Leu273Pro
ENST00000373589.9:c.623T>C	ENSP00000362691.4:p.Leu208Pro
ENST00000415409.6:c.896T>C	ENSP00000396424.2:p.Leu299Pro
ENST00000436675.6:c.*151T>C	ENSP00000416489.1:n.*151T>C
ENST00000478743.2:n.982T>C
ENST00000647594.1:c.896T>C	ENSP00000496814.1:p.Leu299Pro
ENST00000647606.1:c.671T>C
ENST00000647613.1:c.*649T>C	ENSP00000497911.1:n.*649T>C
ENST00000647641.1:n.983T>C
ENST00000647654.1:c.623T>C	ENSP00000497568.1:p.Leu208Pro
ENST00000647718.1:n.951T>C
ENST00000647859.1:c.896T>C	ENSP00000497530.1:p.Leu299Pro
ENST00000647886.1:c.896T>C	ENSP00000497188.1:p.Leu299Pro
ENST00000647980.1:c.890T>C	ENSP00000498002.1:p.Leu297Pro
ENST00000648139.1:c.596T>C	ENSP00000496818.1:p.Leu199Pro
ENST00000648276.1:c.140T>C	ENSP00000497619.1:p.Leu47Pro
ENST00000648285.1:n.679T>C
ENST00000648298.1:c.896T>C	ENSP00000496866.1:p.Leu299Pro
ENST00000648452.1:c.896T>C	ENSP00000497268.1:p.Leu299Pro
ENST00000648459.1:c.293T>C	ENSP00000498072.1:p.Leu98Pro
ENST00000648504.1:c.833T>C	ENSP00000497668.1:p.Leu278Pro
ENST00000648711.1:c.521T>C	ENSP00000498040.1:p.Leu174Pro
ENST00000648731.1:c.1002T>C
ENST00000648834.1:c.896T>C	ENSP00000497764.1:p.Leu299Pro
ENST00000648850.1:c.531T>C
ENST00000648855.1:n.820T>C
ENST00000648870.1:c.896T>C	ENSP00000497599.1:p.Leu299Pro
ENST00000648922.1:c.896T>C	ENSP00000497072.1:p.Leu299Pro
ENST00000648939.1:c.896T>C	ENSP00000497442.1:p.Leu299Pro
ENST00000649097.1:c.896T>C	ENSP00000497551.1:p.Leu299Pro
ENST00000649116.1:c.*453T>C	ENSP00000497925.1:n.*453T>C
ENST00000649181.1:c.*258T>C	ENSP00000498150.1:n.*258T>C
ENST00000649242.1:c.*500T>C	ENSP00000497943.1:n.*500T>C
ENST00000649274.1:c.834T>C	ENSP00000497032.1:n.834T>C
ENST00000649518.1:c.*500T>C	ENSP00000498169.1:n.*500T>C
ENST00000649543.1:c.*500T>C	ENSP00000496826.1:n.*500T>C
ENST00000649752.1:c.623T>C	ENSP00000497267.1:p.Leu208Pro
ENST00000650076.1:c.211+24360T>C
ENST00000650471.1:c.*340T>C	ENSP00000498027.1:n.*340T>C
ENST00000650604.1:c.323T>C	ENSP00000497105.1:p.Leu108Pro
ENST00000373568.6:c.623T>C	ENSP00000362669.2:p.Leu208Pro
ENST00000373573.7:c.896T>C	ENSP00000362674.3:p.Leu299Pro
ENST00000373583.5:c.164+107484T>C	ENSP00000362685.1:n.164+107484T>C
ENST00000373589.8:c.623T>C	ENSP00000362691.4:p.Leu208Pro
ENST00000415409.5:c.818T>C	ENSP00000396424.1:p.Leu273Pro
ENST00000436675.5:c.*151T>C	ENSP00000416489.1:n.*151T>C
NM_001166418.1:c.623T>C	NP_001159890.1:p.Leu208Pro
NM_018486.2:c.896T>C	NP_060956.1:p.Leu299Pro
NR_051952.1:n.1096T>C
XM_011530986.1:c.896T>C	XP_011529288.1:p.Leu299Pro
XM_011530987.1:c.896T>C	XP_011529289.1:p.Leu299Pro
XM_011530988.1:c.896T>C	XP_011529290.1:p.Leu299Pro
XR_938402.1:n.982T>C
XM_011530986.3:c.896T>C	XP_011529288.3:p.Leu299Pro
XM_017029640.2:c.818T>C	XP_016885129.2:p.Leu273Pro
XM_017029641.2:c.818T>C	XP_016885130.2:p.Leu273Pro
XM_017029642.1:c.737T>C	XP_016885131.1:p.Leu246Pro
XM_017029643.2:c.710T>C	XP_016885132.1:p.Leu237Pro
XM_017029644.2:c.659T>C	XP_016885133.1:p.Leu220Pro
XM_017029645.2:c.710T>C	XP_016885134.1:p.Leu237Pro
XM_017029646.1:c.509T>C	XP_016885135.1:p.Leu170Pro
XM_024452405.1:c.311T>C	XP_024308173.1:p.Leu104Pro
XR_001755711.2:n.982T>C
XR_002958779.1:n.982T>C
XR_002958780.1:n.982T>C
XR_002958781.1:n.982T>C
XR_002958782.1:n.958T>C
XR_002958783.1:n.958T>C
XR_938402.3:n.982T>C
NM_018486.3:c.896T>C MANE Select	NP_060956.1:p.Leu299Pro
NM_001166418.2:c.623T>C	NP_001159890.1:p.Leu208Pro
NR_051952.2:n.836T>C