Canonical Allele Identifier: CA413643069

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684495C>G (hg19) ; chrX:g.72464645C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464645C>G , CM000685.2:g.72464645C>G	GRCh38
NC_000023.10:g.71684495C>G , CM000685.1:g.71684495C>G	GRCh37
NC_000023.9:g.71601220C>G	NCBI36
NG_015851.1:g.113459G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.824G>C	ENSP00000362669.3:p.Cys275Ser
ENST00000373573.9:c.824G>C MANE Select	ENSP00000362674.3:p.Cys275Ser
ENST00000373583.6:c.746G>C	ENSP00000362685.2:p.Cys249Ser
ENST00000373589.9:c.551G>C	ENSP00000362691.4:p.Cys184Ser
ENST00000415409.6:c.824G>C	ENSP00000396424.2:p.Cys275Ser
ENST00000436675.6:c.*79G>C	ENSP00000416489.1:n.*79G>C
ENST00000478743.2:n.910G>C
ENST00000647594.1:c.824G>C	ENSP00000496814.1:p.Cys275Ser
ENST00000647606.1:c.599G>C
ENST00000647613.1:c.*577G>C	ENSP00000497911.1:n.*577G>C
ENST00000647641.1:n.911G>C
ENST00000647654.1:c.551G>C	ENSP00000497568.1:p.Cys184Ser
ENST00000647718.1:n.879G>C
ENST00000647859.1:c.824G>C	ENSP00000497530.1:p.Cys275Ser
ENST00000647886.1:c.824G>C	ENSP00000497188.1:p.Cys275Ser
ENST00000647980.1:c.818G>C	ENSP00000498002.1:p.Cys273Ser
ENST00000648139.1:c.524G>C	ENSP00000496818.1:p.Cys175Ser
ENST00000648276.1:c.68G>C	ENSP00000497619.1:p.Cys23Ser
ENST00000648285.1:n.607G>C
ENST00000648298.1:c.824G>C	ENSP00000496866.1:p.Cys275Ser
ENST00000648452.1:c.824G>C	ENSP00000497268.1:p.Cys275Ser
ENST00000648459.1:c.221G>C	ENSP00000498072.1:p.Cys74Ser
ENST00000648504.1:c.761G>C	ENSP00000497668.1:p.Cys254Ser
ENST00000648711.1:c.449G>C	ENSP00000498040.1:p.Cys150Ser
ENST00000648731.1:c.930G>C
ENST00000648834.1:c.824G>C	ENSP00000497764.1:p.Cys275Ser
ENST00000648850.1:c.459G>C
ENST00000648855.1:n.748G>C
ENST00000648870.1:c.824G>C	ENSP00000497599.1:p.Cys275Ser
ENST00000648922.1:c.824G>C	ENSP00000497072.1:p.Cys275Ser
ENST00000648939.1:c.824G>C	ENSP00000497442.1:p.Cys275Ser
ENST00000649097.1:c.824G>C	ENSP00000497551.1:p.Cys275Ser
ENST00000649116.1:c.*381G>C	ENSP00000497925.1:n.*381G>C
ENST00000649181.1:c.*186G>C	ENSP00000498150.1:n.*186G>C
ENST00000649242.1:c.*428G>C	ENSP00000497943.1:n.*428G>C
ENST00000649274.1:c.762G>C	ENSP00000497032.1:n.762G>C
ENST00000649518.1:c.*428G>C	ENSP00000498169.1:n.*428G>C
ENST00000649543.1:c.*428G>C	ENSP00000496826.1:n.*428G>C
ENST00000649752.1:c.551G>C	ENSP00000497267.1:p.Cys184Ser
ENST00000650076.1:c.211+24288G>C
ENST00000650471.1:c.*268G>C	ENSP00000498027.1:n.*268G>C
ENST00000650604.1:c.251G>C	ENSP00000497105.1:p.Cys84Ser
ENST00000373568.6:c.551G>C	ENSP00000362669.2:p.Cys184Ser
ENST00000373573.7:c.824G>C	ENSP00000362674.3:p.Cys275Ser
ENST00000373583.5:c.164+107412G>C	ENSP00000362685.1:n.164+107412G>C
ENST00000373589.8:c.551G>C	ENSP00000362691.4:p.Cys184Ser
ENST00000415409.5:c.746G>C	ENSP00000396424.1:p.Cys249Ser
ENST00000436675.5:c.*79G>C	ENSP00000416489.1:n.*79G>C
NM_001166418.1:c.551G>C	NP_001159890.1:p.Cys184Ser
NM_018486.2:c.824G>C	NP_060956.1:p.Cys275Ser
NR_051952.1:n.1024G>C
XM_011530986.1:c.824G>C	XP_011529288.1:p.Cys275Ser
XM_011530987.1:c.824G>C	XP_011529289.1:p.Cys275Ser
XM_011530988.1:c.824G>C	XP_011529290.1:p.Cys275Ser
XR_938402.1:n.910G>C
XM_011530986.3:c.824G>C	XP_011529288.3:p.Cys275Ser
XM_017029640.2:c.746G>C	XP_016885129.2:p.Cys249Ser
XM_017029641.2:c.746G>C	XP_016885130.2:p.Cys249Ser
XM_017029642.1:c.665G>C	XP_016885131.1:p.Cys222Ser
XM_017029643.2:c.638G>C	XP_016885132.1:p.Cys213Ser
XM_017029644.2:c.587G>C	XP_016885133.1:p.Cys196Ser
XM_017029645.2:c.638G>C	XP_016885134.1:p.Cys213Ser
XM_017029646.1:c.437G>C	XP_016885135.1:p.Cys146Ser
XM_024452405.1:c.239G>C	XP_024308173.1:p.Cys80Ser
XR_001755711.2:n.910G>C
XR_002958779.1:n.910G>C
XR_002958780.1:n.910G>C
XR_002958781.1:n.910G>C
XR_002958782.1:n.886G>C
XR_002958783.1:n.886G>C
XR_938402.3:n.910G>C
NM_018486.3:c.824G>C MANE Select	NP_060956.1:p.Cys275Ser
NM_001166418.2:c.551G>C	NP_001159890.1:p.Cys184Ser
NR_051952.2:n.764G>C