Canonical Allele Identifier: CA413642761

Gene: HDAC8

Linked Data

• gnomAD v4: X-72464579-G-A
• MyVariant Identifiers: chrX:g.71684429G>A (hg19) ; chrX:g.72464579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464579G>A , CM000685.2:g.72464579G>A	GRCh38
NC_000023.10:g.71684429G>A , CM000685.1:g.71684429G>A	GRCh37
NC_000023.9:g.71601154G>A	NCBI36
NG_015851.1:g.113525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.890C>T	ENSP00000362669.3:p.Ala297Val
ENST00000373573.9:c.890C>T MANE Select	ENSP00000362674.3:p.Ala297Val
ENST00000373583.6:c.812C>T	ENSP00000362685.2:p.Ala271Val
ENST00000373589.9:c.617C>T	ENSP00000362691.4:p.Ala206Val
ENST00000415409.6:c.890C>T	ENSP00000396424.2:p.Ala297Val
ENST00000436675.6:c.*145C>T	ENSP00000416489.1:n.*145C>T
ENST00000478743.2:n.976C>T
ENST00000647594.1:c.890C>T	ENSP00000496814.1:p.Ala297Val
ENST00000647606.1:c.665C>T
ENST00000647613.1:c.*643C>T	ENSP00000497911.1:n.*643C>T
ENST00000647641.1:n.977C>T
ENST00000647654.1:c.617C>T	ENSP00000497568.1:p.Ala206Val
ENST00000647718.1:n.945C>T
ENST00000647859.1:c.890C>T	ENSP00000497530.1:p.Ala297Val
ENST00000647886.1:c.890C>T	ENSP00000497188.1:p.Ala297Val
ENST00000647980.1:c.884C>T	ENSP00000498002.1:p.Ala295Val
ENST00000648139.1:c.590C>T	ENSP00000496818.1:p.Ala197Val
ENST00000648276.1:c.134C>T	ENSP00000497619.1:p.Ala45Val
ENST00000648285.1:n.673C>T
ENST00000648298.1:c.890C>T	ENSP00000496866.1:p.Ala297Val
ENST00000648452.1:c.890C>T	ENSP00000497268.1:p.Ala297Val
ENST00000648459.1:c.287C>T	ENSP00000498072.1:p.Ala96Val
ENST00000648504.1:c.827C>T	ENSP00000497668.1:p.Ala276Val
ENST00000648711.1:c.515C>T	ENSP00000498040.1:p.Ala172Val
ENST00000648731.1:c.996C>T
ENST00000648834.1:c.890C>T	ENSP00000497764.1:p.Ala297Val
ENST00000648850.1:c.525C>T
ENST00000648855.1:n.814C>T
ENST00000648870.1:c.890C>T	ENSP00000497599.1:p.Ala297Val
ENST00000648922.1:c.890C>T	ENSP00000497072.1:p.Ala297Val
ENST00000648939.1:c.890C>T	ENSP00000497442.1:p.Ala297Val
ENST00000649097.1:c.890C>T	ENSP00000497551.1:p.Ala297Val
ENST00000649116.1:c.*447C>T	ENSP00000497925.1:n.*447C>T
ENST00000649181.1:c.*252C>T	ENSP00000498150.1:n.*252C>T
ENST00000649242.1:c.*494C>T	ENSP00000497943.1:n.*494C>T
ENST00000649274.1:c.828C>T	ENSP00000497032.1:n.828C>T
ENST00000649518.1:c.*494C>T	ENSP00000498169.1:n.*494C>T
ENST00000649543.1:c.*494C>T	ENSP00000496826.1:n.*494C>T
ENST00000649752.1:c.617C>T	ENSP00000497267.1:p.Ala206Val
ENST00000650076.1:c.211+24354C>T
ENST00000650471.1:c.*334C>T	ENSP00000498027.1:n.*334C>T
ENST00000650604.1:c.317C>T	ENSP00000497105.1:p.Ala106Val
ENST00000373568.6:c.617C>T	ENSP00000362669.2:p.Ala206Val
ENST00000373573.7:c.890C>T	ENSP00000362674.3:p.Ala297Val
ENST00000373583.5:c.164+107478C>T	ENSP00000362685.1:n.164+107478C>T
ENST00000373589.8:c.617C>T	ENSP00000362691.4:p.Ala206Val
ENST00000415409.5:c.812C>T	ENSP00000396424.1:p.Ala271Val
ENST00000436675.5:c.*145C>T	ENSP00000416489.1:n.*145C>T
NM_001166418.1:c.617C>T	NP_001159890.1:p.Ala206Val
NM_018486.2:c.890C>T	NP_060956.1:p.Ala297Val
NR_051952.1:n.1090C>T
XM_011530986.1:c.890C>T	XP_011529288.1:p.Ala297Val
XM_011530987.1:c.890C>T	XP_011529289.1:p.Ala297Val
XM_011530988.1:c.890C>T	XP_011529290.1:p.Ala297Val
XR_938402.1:n.976C>T
XM_011530986.3:c.890C>T	XP_011529288.3:p.Ala297Val
XM_017029640.2:c.812C>T	XP_016885129.2:p.Ala271Val
XM_017029641.2:c.812C>T	XP_016885130.2:p.Ala271Val
XM_017029642.1:c.731C>T	XP_016885131.1:p.Ala244Val
XM_017029643.2:c.704C>T	XP_016885132.1:p.Ala235Val
XM_017029644.2:c.653C>T	XP_016885133.1:p.Ala218Val
XM_017029645.2:c.704C>T	XP_016885134.1:p.Ala235Val
XM_017029646.1:c.503C>T	XP_016885135.1:p.Ala168Val
XM_024452405.1:c.305C>T	XP_024308173.1:p.Ala102Val
XR_001755711.2:n.976C>T
XR_002958779.1:n.976C>T
XR_002958780.1:n.976C>T
XR_002958781.1:n.976C>T
XR_002958782.1:n.952C>T
XR_002958783.1:n.952C>T
XR_938402.3:n.976C>T
NM_018486.3:c.890C>T MANE Select	NP_060956.1:p.Ala297Val
NM_001166418.2:c.617C>T	NP_001159890.1:p.Ala206Val
NR_051952.2:n.830C>T