Canonical Allele Identifier: CA413642732

Gene: HDAC8

Linked Data

• ClinVar Variation Id: 2710791
• ClinVar RCV Id: RCV003537537
• MyVariant Identifiers: chrX:g.71684421T>G (hg19) ; chrX:g.72464571T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464571T>G , CM000685.2:g.72464571T>G	GRCh38
NC_000023.10:g.71684421T>G , CM000685.1:g.71684421T>G	GRCh37
NC_000023.9:g.71601146T>G	NCBI36
NG_015851.1:g.113533A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.898A>C	ENSP00000362669.3:p.Ile300Leu
ENST00000373573.9:c.898A>C MANE Select	ENSP00000362674.3:p.Ile300Leu
ENST00000373583.6:c.820A>C	ENSP00000362685.2:p.Ile274Leu
ENST00000373589.9:c.625A>C	ENSP00000362691.4:p.Ile209Leu
ENST00000415409.6:c.898A>C	ENSP00000396424.2:p.Ile300Leu
ENST00000436675.6:c.*153A>C	ENSP00000416489.1:n.*153A>C
ENST00000478743.2:n.984A>C
ENST00000647594.1:c.898A>C	ENSP00000496814.1:p.Ile300Leu
ENST00000647606.1:c.673A>C
ENST00000647613.1:c.*651A>C	ENSP00000497911.1:n.*651A>C
ENST00000647641.1:n.985A>C
ENST00000647654.1:c.625A>C	ENSP00000497568.1:p.Ile209Leu
ENST00000647718.1:n.953A>C
ENST00000647859.1:c.898A>C	ENSP00000497530.1:p.Ile300Leu
ENST00000647886.1:c.898A>C	ENSP00000497188.1:p.Ile300Leu
ENST00000647980.1:c.892A>C	ENSP00000498002.1:p.Ile298Leu
ENST00000648139.1:c.598A>C	ENSP00000496818.1:p.Ile200Leu
ENST00000648276.1:c.142A>C	ENSP00000497619.1:p.Ile48Leu
ENST00000648285.1:n.681A>C
ENST00000648298.1:c.898A>C	ENSP00000496866.1:p.Ile300Leu
ENST00000648452.1:c.898A>C	ENSP00000497268.1:p.Ile300Leu
ENST00000648459.1:c.295A>C	ENSP00000498072.1:p.Ile99Leu
ENST00000648504.1:c.835A>C	ENSP00000497668.1:p.Ile279Leu
ENST00000648711.1:c.523A>C	ENSP00000498040.1:p.Ile175Leu
ENST00000648731.1:c.1004A>C
ENST00000648834.1:c.898A>C	ENSP00000497764.1:p.Ile300Leu
ENST00000648850.1:c.533A>C
ENST00000648855.1:n.822A>C
ENST00000648870.1:c.898A>C	ENSP00000497599.1:p.Ile300Leu
ENST00000648922.1:c.898A>C	ENSP00000497072.1:p.Ile300Leu
ENST00000648939.1:c.898A>C	ENSP00000497442.1:p.Ile300Leu
ENST00000649097.1:c.898A>C	ENSP00000497551.1:p.Ile300Leu
ENST00000649116.1:c.*455A>C	ENSP00000497925.1:n.*455A>C
ENST00000649181.1:c.*260A>C	ENSP00000498150.1:n.*260A>C
ENST00000649242.1:c.*502A>C	ENSP00000497943.1:n.*502A>C
ENST00000649274.1:c.836A>C	ENSP00000497032.1:n.836A>C
ENST00000649518.1:c.*502A>C	ENSP00000498169.1:n.*502A>C
ENST00000649543.1:c.*502A>C	ENSP00000496826.1:n.*502A>C
ENST00000649752.1:c.625A>C	ENSP00000497267.1:p.Ile209Leu
ENST00000650076.1:c.211+24362A>C
ENST00000650471.1:c.*342A>C	ENSP00000498027.1:n.*342A>C
ENST00000650604.1:c.325A>C	ENSP00000497105.1:p.Ile109Leu
ENST00000373568.6:c.625A>C	ENSP00000362669.2:p.Ile209Leu
ENST00000373573.7:c.898A>C	ENSP00000362674.3:p.Ile300Leu
ENST00000373583.5:c.164+107486A>C	ENSP00000362685.1:n.164+107486A>C
ENST00000373589.8:c.625A>C	ENSP00000362691.4:p.Ile209Leu
ENST00000415409.5:c.820A>C	ENSP00000396424.1:p.Ile274Leu
ENST00000436675.5:c.*153A>C	ENSP00000416489.1:n.*153A>C
NM_001166418.1:c.625A>C	NP_001159890.1:p.Ile209Leu
NM_018486.2:c.898A>C	NP_060956.1:p.Ile300Leu
NR_051952.1:n.1098A>C
XM_011530986.1:c.898A>C	XP_011529288.1:p.Ile300Leu
XM_011530987.1:c.898A>C	XP_011529289.1:p.Ile300Leu
XM_011530988.1:c.898A>C	XP_011529290.1:p.Ile300Leu
XR_938402.1:n.984A>C
XM_011530986.3:c.898A>C	XP_011529288.3:p.Ile300Leu
XM_017029640.2:c.820A>C	XP_016885129.2:p.Ile274Leu
XM_017029641.2:c.820A>C	XP_016885130.2:p.Ile274Leu
XM_017029642.1:c.739A>C	XP_016885131.1:p.Ile247Leu
XM_017029643.2:c.712A>C	XP_016885132.1:p.Ile238Leu
XM_017029644.2:c.661A>C	XP_016885133.1:p.Ile221Leu
XM_017029645.2:c.712A>C	XP_016885134.1:p.Ile238Leu
XM_017029646.1:c.511A>C	XP_016885135.1:p.Ile171Leu
XM_024452405.1:c.313A>C	XP_024308173.1:p.Ile105Leu
XR_001755711.2:n.984A>C
XR_002958779.1:n.984A>C
XR_002958780.1:n.984A>C
XR_002958781.1:n.984A>C
XR_002958782.1:n.960A>C
XR_002958783.1:n.960A>C
XR_938402.3:n.984A>C
NM_018486.3:c.898A>C MANE Select	NP_060956.1:p.Ile300Leu
NM_001166418.2:c.625A>C	NP_001159890.1:p.Ile209Leu
NR_051952.2:n.838A>C