Canonical Allele Identifier: CA413643076

Gene: HDAC8

Linked Data

• gnomAD v4: X-72464646-A-T
• MyVariant Identifiers: chrX:g.71684496A>T (hg19) ; chrX:g.72464646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464646A>T , CM000685.2:g.72464646A>T	GRCh38
NC_000023.10:g.71684496A>T , CM000685.1:g.71684496A>T	GRCh37
NC_000023.9:g.71601221A>T	NCBI36
NG_015851.1:g.113458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.823T>A	ENSP00000362669.3:p.Cys275Ser
ENST00000373573.9:c.823T>A MANE Select	ENSP00000362674.3:p.Cys275Ser
ENST00000373583.6:c.745T>A	ENSP00000362685.2:p.Cys249Ser
ENST00000373589.9:c.550T>A	ENSP00000362691.4:p.Cys184Ser
ENST00000415409.6:c.823T>A	ENSP00000396424.2:p.Cys275Ser
ENST00000436675.6:c.*78T>A	ENSP00000416489.1:n.*78T>A
ENST00000478743.2:n.909T>A
ENST00000647594.1:c.823T>A	ENSP00000496814.1:p.Cys275Ser
ENST00000647606.1:c.598T>A
ENST00000647613.1:c.*576T>A	ENSP00000497911.1:n.*576T>A
ENST00000647641.1:n.910T>A
ENST00000647654.1:c.550T>A	ENSP00000497568.1:p.Cys184Ser
ENST00000647718.1:n.878T>A
ENST00000647859.1:c.823T>A	ENSP00000497530.1:p.Cys275Ser
ENST00000647886.1:c.823T>A	ENSP00000497188.1:p.Cys275Ser
ENST00000647980.1:c.817T>A	ENSP00000498002.1:p.Cys273Ser
ENST00000648139.1:c.523T>A	ENSP00000496818.1:p.Cys175Ser
ENST00000648276.1:c.67T>A	ENSP00000497619.1:p.Cys23Ser
ENST00000648285.1:n.606T>A
ENST00000648298.1:c.823T>A	ENSP00000496866.1:p.Cys275Ser
ENST00000648452.1:c.823T>A	ENSP00000497268.1:p.Cys275Ser
ENST00000648459.1:c.220T>A	ENSP00000498072.1:p.Cys74Ser
ENST00000648504.1:c.760T>A	ENSP00000497668.1:p.Cys254Ser
ENST00000648711.1:c.448T>A	ENSP00000498040.1:p.Cys150Ser
ENST00000648731.1:c.929T>A
ENST00000648834.1:c.823T>A	ENSP00000497764.1:p.Cys275Ser
ENST00000648850.1:c.458T>A
ENST00000648855.1:n.747T>A
ENST00000648870.1:c.823T>A	ENSP00000497599.1:p.Cys275Ser
ENST00000648922.1:c.823T>A	ENSP00000497072.1:p.Cys275Ser
ENST00000648939.1:c.823T>A	ENSP00000497442.1:p.Cys275Ser
ENST00000649097.1:c.823T>A	ENSP00000497551.1:p.Cys275Ser
ENST00000649116.1:c.*380T>A	ENSP00000497925.1:n.*380T>A
ENST00000649181.1:c.*185T>A	ENSP00000498150.1:n.*185T>A
ENST00000649242.1:c.*427T>A	ENSP00000497943.1:n.*427T>A
ENST00000649274.1:c.761T>A	ENSP00000497032.1:n.761T>A
ENST00000649518.1:c.*427T>A	ENSP00000498169.1:n.*427T>A
ENST00000649543.1:c.*427T>A	ENSP00000496826.1:n.*427T>A
ENST00000649752.1:c.550T>A	ENSP00000497267.1:p.Cys184Ser
ENST00000650076.1:c.211+24287T>A
ENST00000650471.1:c.*267T>A	ENSP00000498027.1:n.*267T>A
ENST00000650604.1:c.250T>A	ENSP00000497105.1:p.Cys84Ser
ENST00000373568.6:c.550T>A	ENSP00000362669.2:p.Cys184Ser
ENST00000373573.7:c.823T>A	ENSP00000362674.3:p.Cys275Ser
ENST00000373583.5:c.164+107411T>A	ENSP00000362685.1:n.164+107411T>A
ENST00000373589.8:c.550T>A	ENSP00000362691.4:p.Cys184Ser
ENST00000415409.5:c.745T>A	ENSP00000396424.1:p.Cys249Ser
ENST00000436675.5:c.*78T>A	ENSP00000416489.1:n.*78T>A
NM_001166418.1:c.550T>A	NP_001159890.1:p.Cys184Ser
NM_018486.2:c.823T>A	NP_060956.1:p.Cys275Ser
NR_051952.1:n.1023T>A
XM_011530986.1:c.823T>A	XP_011529288.1:p.Cys275Ser
XM_011530987.1:c.823T>A	XP_011529289.1:p.Cys275Ser
XM_011530988.1:c.823T>A	XP_011529290.1:p.Cys275Ser
XR_938402.1:n.909T>A
XM_011530986.3:c.823T>A	XP_011529288.3:p.Cys275Ser
XM_017029640.2:c.745T>A	XP_016885129.2:p.Cys249Ser
XM_017029641.2:c.745T>A	XP_016885130.2:p.Cys249Ser
XM_017029642.1:c.664T>A	XP_016885131.1:p.Cys222Ser
XM_017029643.2:c.637T>A	XP_016885132.1:p.Cys213Ser
XM_017029644.2:c.586T>A	XP_016885133.1:p.Cys196Ser
XM_017029645.2:c.637T>A	XP_016885134.1:p.Cys213Ser
XM_017029646.1:c.436T>A	XP_016885135.1:p.Cys146Ser
XM_024452405.1:c.238T>A	XP_024308173.1:p.Cys80Ser
XR_001755711.2:n.909T>A
XR_002958779.1:n.909T>A
XR_002958780.1:n.909T>A
XR_002958781.1:n.909T>A
XR_002958782.1:n.885T>A
XR_002958783.1:n.885T>A
XR_938402.3:n.909T>A
NM_018486.3:c.823T>A MANE Select	NP_060956.1:p.Cys275Ser
NM_001166418.2:c.550T>A	NP_001159890.1:p.Cys184Ser
NR_051952.2:n.763T>A