Canonical Allele Identifier: CA413642713

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684417A>T (hg19) ; chrX:g.72464567A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464567A>T , CM000685.2:g.72464567A>T	GRCh38
NC_000023.10:g.71684417A>T , CM000685.1:g.71684417A>T	GRCh37
NC_000023.9:g.71601142A>T	NCBI36
NG_015851.1:g.113537T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.902T>A	ENSP00000362669.3:p.Leu301Ter
ENST00000373573.9:c.902T>A MANE Select	ENSP00000362674.3:p.Leu301Ter
ENST00000373583.6:c.824T>A	ENSP00000362685.2:p.Leu275Ter
ENST00000373589.9:c.629T>A	ENSP00000362691.4:p.Leu210Ter
ENST00000415409.6:c.902T>A	ENSP00000396424.2:p.Leu301Ter
ENST00000436675.6:c.*157T>A	ENSP00000416489.1:n.*157T>A
ENST00000478743.2:n.988T>A
ENST00000647594.1:c.902T>A	ENSP00000496814.1:p.Leu301Ter
ENST00000647606.1:c.677T>A
ENST00000647613.1:c.*655T>A	ENSP00000497911.1:n.*655T>A
ENST00000647641.1:n.989T>A
ENST00000647654.1:c.629T>A	ENSP00000497568.1:p.Leu210Ter
ENST00000647718.1:n.957T>A
ENST00000647859.1:c.902T>A	ENSP00000497530.1:p.Leu301Ter
ENST00000647886.1:c.902T>A	ENSP00000497188.1:p.Leu301Ter
ENST00000647980.1:c.896T>A	ENSP00000498002.1:p.Leu299Ter
ENST00000648139.1:c.602T>A	ENSP00000496818.1:p.Leu201Ter
ENST00000648276.1:c.146T>A	ENSP00000497619.1:p.Leu49Ter
ENST00000648285.1:n.685T>A
ENST00000648298.1:c.902T>A	ENSP00000496866.1:p.Leu301Ter
ENST00000648452.1:c.902T>A	ENSP00000497268.1:p.Leu301Ter
ENST00000648459.1:c.299T>A	ENSP00000498072.1:p.Leu100Ter
ENST00000648504.1:c.839T>A	ENSP00000497668.1:p.Leu280Ter
ENST00000648711.1:c.527T>A	ENSP00000498040.1:p.Leu176Ter
ENST00000648731.1:c.1008T>A
ENST00000648834.1:c.902T>A	ENSP00000497764.1:p.Leu301Ter
ENST00000648850.1:c.537T>A
ENST00000648855.1:n.826T>A
ENST00000648870.1:c.902T>A	ENSP00000497599.1:p.Leu301Ter
ENST00000648922.1:c.902T>A	ENSP00000497072.1:p.Leu301Ter
ENST00000648939.1:c.902T>A	ENSP00000497442.1:p.Leu301Ter
ENST00000649097.1:c.902T>A	ENSP00000497551.1:p.Leu301Ter
ENST00000649116.1:c.*459T>A	ENSP00000497925.1:n.*459T>A
ENST00000649181.1:c.*264T>A	ENSP00000498150.1:n.*264T>A
ENST00000649242.1:c.*506T>A	ENSP00000497943.1:n.*506T>A
ENST00000649274.1:c.840T>A	ENSP00000497032.1:n.840T>A
ENST00000649518.1:c.*506T>A	ENSP00000498169.1:n.*506T>A
ENST00000649543.1:c.*506T>A	ENSP00000496826.1:n.*506T>A
ENST00000649752.1:c.629T>A	ENSP00000497267.1:p.Leu210Ter
ENST00000650076.1:c.211+24366T>A
ENST00000650471.1:c.*346T>A	ENSP00000498027.1:n.*346T>A
ENST00000650604.1:c.329T>A	ENSP00000497105.1:p.Leu110Ter
ENST00000373568.6:c.629T>A	ENSP00000362669.2:p.Leu210Ter
ENST00000373573.7:c.902T>A	ENSP00000362674.3:p.Leu301Ter
ENST00000373583.5:c.164+107490T>A	ENSP00000362685.1:n.164+107490T>A
ENST00000373589.8:c.629T>A	ENSP00000362691.4:p.Leu210Ter
ENST00000415409.5:c.824T>A	ENSP00000396424.1:p.Leu275Ter
ENST00000436675.5:c.*157T>A	ENSP00000416489.1:n.*157T>A
NM_001166418.1:c.629T>A	NP_001159890.1:p.Leu210Ter
NM_018486.2:c.902T>A	NP_060956.1:p.Leu301Ter
NR_051952.1:n.1102T>A
XM_011530986.1:c.902T>A	XP_011529288.1:p.Leu301Ter
XM_011530987.1:c.902T>A	XP_011529289.1:p.Leu301Ter
XM_011530988.1:c.902T>A	XP_011529290.1:p.Leu301Ter
XR_938402.1:n.988T>A
XM_011530986.3:c.902T>A	XP_011529288.3:p.Leu301Ter
XM_017029640.2:c.824T>A	XP_016885129.2:p.Leu275Ter
XM_017029641.2:c.824T>A	XP_016885130.2:p.Leu275Ter
XM_017029642.1:c.743T>A	XP_016885131.1:p.Leu248Ter
XM_017029643.2:c.716T>A	XP_016885132.1:p.Leu239Ter
XM_017029644.2:c.665T>A	XP_016885133.1:p.Leu222Ter
XM_017029645.2:c.716T>A	XP_016885134.1:p.Leu239Ter
XM_017029646.1:c.515T>A	XP_016885135.1:p.Leu172Ter
XM_024452405.1:c.317T>A	XP_024308173.1:p.Leu106Ter
XR_001755711.2:n.988T>A
XR_002958779.1:n.988T>A
XR_002958780.1:n.988T>A
XR_002958781.1:n.988T>A
XR_002958782.1:n.964T>A
XR_002958783.1:n.964T>A
XR_938402.3:n.988T>A
NM_018486.3:c.902T>A MANE Select	NP_060956.1:p.Leu301Ter
NM_001166418.2:c.629T>A	NP_001159890.1:p.Leu210Ter
NR_051952.2:n.842T>A