Canonical Allele Identifier: CA516779349
Gene: HDAC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.71684443A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72464593A>G , CM000685.2:g.72464593A>G GRCh38
NC_000023.10:g.71684443A>G , CM000685.1:g.71684443A>G GRCh37
NC_000023.9:g.71601168A>G NCBI36
NG_015851.1:g.113511T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373568.7:c.876T>C ENSP00000362669.3:p.Leu292=
ENST00000373573.9:c.876T>C MANE Select ENSP00000362674.3:p.Leu292=
ENST00000373583.6:c.798T>C ENSP00000362685.2:p.Leu266=
ENST00000373589.9:c.603T>C ENSP00000362691.4:p.Leu201=
ENST00000415409.6:c.876T>C ENSP00000396424.2:p.Leu292=
ENST00000436675.6:c.*131T>C ENSP00000416489.1:n.*131T>C
ENST00000478743.2:n.962T>C
ENST00000647594.1:c.876T>C ENSP00000496814.1:p.Leu292=
ENST00000647606.1:c.651T>C
ENST00000647613.1:c.*629T>C ENSP00000497911.1:n.*629T>C
ENST00000647641.1:n.963T>C
ENST00000647654.1:c.603T>C ENSP00000497568.1:p.Leu201=
ENST00000647718.1:n.931T>C
ENST00000647859.1:c.876T>C ENSP00000497530.1:p.Leu292=
ENST00000647886.1:c.876T>C ENSP00000497188.1:p.Leu292=
ENST00000647980.1:c.870T>C ENSP00000498002.1:p.Leu290=
ENST00000648139.1:c.576T>C ENSP00000496818.1:p.Leu192=
ENST00000648276.1:c.120T>C ENSP00000497619.1:p.Leu40=
ENST00000648285.1:n.659T>C
ENST00000648298.1:c.876T>C ENSP00000496866.1:p.Leu292=
ENST00000648452.1:c.876T>C ENSP00000497268.1:p.Leu292=
ENST00000648459.1:c.273T>C ENSP00000498072.1:p.Leu91=
ENST00000648504.1:c.813T>C ENSP00000497668.1:p.Leu271=
ENST00000648711.1:c.501T>C ENSP00000498040.1:p.Leu167=
ENST00000648731.1:c.982T>C
ENST00000648834.1:c.876T>C ENSP00000497764.1:p.Leu292=
ENST00000648850.1:c.511T>C
ENST00000648855.1:n.800T>C
ENST00000648870.1:c.876T>C ENSP00000497599.1:p.Leu292=
ENST00000648922.1:c.876T>C ENSP00000497072.1:p.Leu292=
ENST00000648939.1:c.876T>C ENSP00000497442.1:p.Leu292=
ENST00000649097.1:c.876T>C ENSP00000497551.1:p.Leu292=
ENST00000649116.1:c.*433T>C ENSP00000497925.1:n.*433T>C
ENST00000649181.1:c.*238T>C ENSP00000498150.1:n.*238T>C
ENST00000649242.1:c.*480T>C ENSP00000497943.1:n.*480T>C
ENST00000649274.1:c.814T>C ENSP00000497032.1:n.814T>C
ENST00000649518.1:c.*480T>C ENSP00000498169.1:n.*480T>C
ENST00000649543.1:c.*480T>C ENSP00000496826.1:n.*480T>C
ENST00000649752.1:c.603T>C ENSP00000497267.1:p.Leu201=
ENST00000650076.1:c.211+24340T>C
ENST00000650471.1:c.*320T>C ENSP00000498027.1:n.*320T>C
ENST00000650604.1:c.303T>C ENSP00000497105.1:p.Leu101=
ENST00000373568.6:c.603T>C ENSP00000362669.2:p.Leu201=
ENST00000373573.7:c.876T>C ENSP00000362674.3:p.Leu292=
ENST00000373583.5:c.164+107464T>C ENSP00000362685.1:n.164+107464T>C
ENST00000373589.8:c.603T>C ENSP00000362691.4:p.Leu201=
ENST00000415409.5:c.798T>C ENSP00000396424.1:p.Leu266=
ENST00000436675.5:c.*131T>C ENSP00000416489.1:n.*131T>C
NM_001166418.1:c.603T>C NP_001159890.1:p.Leu201=
NM_018486.2:c.876T>C NP_060956.1:p.Leu292=
NR_051952.1:n.1076T>C
XM_011530986.1:c.876T>C XP_011529288.1:p.Leu292=
XM_011530987.1:c.876T>C XP_011529289.1:p.Leu292=
XM_011530988.1:c.876T>C XP_011529290.1:p.Leu292=
XR_938402.1:n.962T>C
XM_011530986.3:c.876T>C XP_011529288.3:p.Leu292=
XM_017029640.2:c.798T>C XP_016885129.2:p.Leu266=
XM_017029641.2:c.798T>C XP_016885130.2:p.Leu266=
XM_017029642.1:c.717T>C XP_016885131.1:p.Leu239=
XM_017029643.2:c.690T>C XP_016885132.1:p.Leu230=
XM_017029644.2:c.639T>C XP_016885133.1:p.Leu213=
XM_017029645.2:c.690T>C XP_016885134.1:p.Leu230=
XM_017029646.1:c.489T>C XP_016885135.1:p.Leu163=
XM_024452405.1:c.291T>C XP_024308173.1:p.Leu97=
XR_001755711.2:n.962T>C
XR_002958779.1:n.962T>C
XR_002958780.1:n.962T>C
XR_002958781.1:n.962T>C
XR_002958782.1:n.938T>C
XR_002958783.1:n.938T>C
XR_938402.3:n.962T>C
NM_018486.3:c.876T>C MANE Select NP_060956.1:p.Leu292=
NM_001166418.2:c.603T>C NP_001159890.1:p.Leu201=
NR_051952.2:n.816T>C