Canonical Allele Identifier: CA413642985

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684475C>G (hg19) ; chrX:g.72464625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464625C>G , CM000685.2:g.72464625C>G	GRCh38
NC_000023.10:g.71684475C>G , CM000685.1:g.71684475C>G	GRCh37
NC_000023.9:g.71601200C>G	NCBI36
NG_015851.1:g.113479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.844G>C	ENSP00000362669.3:p.Val282Leu
ENST00000373573.9:c.844G>C MANE Select	ENSP00000362674.3:p.Val282Leu
ENST00000373583.6:c.766G>C	ENSP00000362685.2:p.Val256Leu
ENST00000373589.9:c.571G>C	ENSP00000362691.4:p.Val191Leu
ENST00000415409.6:c.844G>C	ENSP00000396424.2:p.Val282Leu
ENST00000436675.6:c.*99G>C	ENSP00000416489.1:n.*99G>C
ENST00000478743.2:n.930G>C
ENST00000647594.1:c.844G>C	ENSP00000496814.1:p.Val282Leu
ENST00000647606.1:c.619G>C
ENST00000647613.1:c.*597G>C	ENSP00000497911.1:n.*597G>C
ENST00000647641.1:n.931G>C
ENST00000647654.1:c.571G>C	ENSP00000497568.1:p.Val191Leu
ENST00000647718.1:n.899G>C
ENST00000647859.1:c.844G>C	ENSP00000497530.1:p.Val282Leu
ENST00000647886.1:c.844G>C	ENSP00000497188.1:p.Val282Leu
ENST00000647980.1:c.838G>C	ENSP00000498002.1:p.Val280Leu
ENST00000648139.1:c.544G>C	ENSP00000496818.1:p.Val182Leu
ENST00000648276.1:c.88G>C	ENSP00000497619.1:p.Val30Leu
ENST00000648285.1:n.627G>C
ENST00000648298.1:c.844G>C	ENSP00000496866.1:p.Val282Leu
ENST00000648452.1:c.844G>C	ENSP00000497268.1:p.Val282Leu
ENST00000648459.1:c.241G>C	ENSP00000498072.1:p.Val81Leu
ENST00000648504.1:c.781G>C	ENSP00000497668.1:p.Val261Leu
ENST00000648711.1:c.469G>C	ENSP00000498040.1:p.Val157Leu
ENST00000648731.1:c.950G>C
ENST00000648834.1:c.844G>C	ENSP00000497764.1:p.Val282Leu
ENST00000648850.1:c.479G>C
ENST00000648855.1:n.768G>C
ENST00000648870.1:c.844G>C	ENSP00000497599.1:p.Val282Leu
ENST00000648922.1:c.844G>C	ENSP00000497072.1:p.Val282Leu
ENST00000648939.1:c.844G>C	ENSP00000497442.1:p.Val282Leu
ENST00000649097.1:c.844G>C	ENSP00000497551.1:p.Val282Leu
ENST00000649116.1:c.*401G>C	ENSP00000497925.1:n.*401G>C
ENST00000649181.1:c.*206G>C	ENSP00000498150.1:n.*206G>C
ENST00000649242.1:c.*448G>C	ENSP00000497943.1:n.*448G>C
ENST00000649274.1:c.782G>C	ENSP00000497032.1:n.782G>C
ENST00000649518.1:c.*448G>C	ENSP00000498169.1:n.*448G>C
ENST00000649543.1:c.*448G>C	ENSP00000496826.1:n.*448G>C
ENST00000649752.1:c.571G>C	ENSP00000497267.1:p.Val191Leu
ENST00000650076.1:c.211+24308G>C
ENST00000650471.1:c.*288G>C	ENSP00000498027.1:n.*288G>C
ENST00000650604.1:c.271G>C	ENSP00000497105.1:p.Val91Leu
ENST00000373568.6:c.571G>C	ENSP00000362669.2:p.Val191Leu
ENST00000373573.7:c.844G>C	ENSP00000362674.3:p.Val282Leu
ENST00000373583.5:c.164+107432G>C	ENSP00000362685.1:n.164+107432G>C
ENST00000373589.8:c.571G>C	ENSP00000362691.4:p.Val191Leu
ENST00000415409.5:c.766G>C	ENSP00000396424.1:p.Val256Leu
ENST00000436675.5:c.*99G>C	ENSP00000416489.1:n.*99G>C
NM_001166418.1:c.571G>C	NP_001159890.1:p.Val191Leu
NM_018486.2:c.844G>C	NP_060956.1:p.Val282Leu
NR_051952.1:n.1044G>C
XM_011530986.1:c.844G>C	XP_011529288.1:p.Val282Leu
XM_011530987.1:c.844G>C	XP_011529289.1:p.Val282Leu
XM_011530988.1:c.844G>C	XP_011529290.1:p.Val282Leu
XR_938402.1:n.930G>C
XM_011530986.3:c.844G>C	XP_011529288.3:p.Val282Leu
XM_017029640.2:c.766G>C	XP_016885129.2:p.Val256Leu
XM_017029641.2:c.766G>C	XP_016885130.2:p.Val256Leu
XM_017029642.1:c.685G>C	XP_016885131.1:p.Val229Leu
XM_017029643.2:c.658G>C	XP_016885132.1:p.Val220Leu
XM_017029644.2:c.607G>C	XP_016885133.1:p.Val203Leu
XM_017029645.2:c.658G>C	XP_016885134.1:p.Val220Leu
XM_017029646.1:c.457G>C	XP_016885135.1:p.Val153Leu
XM_024452405.1:c.259G>C	XP_024308173.1:p.Val87Leu
XR_001755711.2:n.930G>C
XR_002958779.1:n.930G>C
XR_002958780.1:n.930G>C
XR_002958781.1:n.930G>C
XR_002958782.1:n.906G>C
XR_002958783.1:n.906G>C
XR_938402.3:n.930G>C
NM_018486.3:c.844G>C MANE Select	NP_060956.1:p.Val282Leu
NM_001166418.2:c.571G>C	NP_001159890.1:p.Val191Leu
NR_051952.2:n.784G>C