Canonical Allele Identifier: CA516779358
Gene: HDAC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.71684455A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72464605A>C , CM000685.2:g.72464605A>C GRCh38
NC_000023.10:g.71684455A>C , CM000685.1:g.71684455A>C GRCh37
NC_000023.9:g.71601180A>C NCBI36
NG_015851.1:g.113499T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373568.7:c.864T>G ENSP00000362669.3:p.Leu288=
ENST00000373573.9:c.864T>G MANE Select ENSP00000362674.3:p.Leu288=
ENST00000373583.6:c.786T>G ENSP00000362685.2:p.Leu262=
ENST00000373589.9:c.591T>G ENSP00000362691.4:p.Leu197=
ENST00000415409.6:c.864T>G ENSP00000396424.2:p.Leu288=
ENST00000436675.6:c.*119T>G ENSP00000416489.1:n.*119T>G
ENST00000478743.2:n.950T>G
ENST00000647594.1:c.864T>G ENSP00000496814.1:p.Leu288=
ENST00000647606.1:c.639T>G
ENST00000647613.1:c.*617T>G ENSP00000497911.1:n.*617T>G
ENST00000647641.1:n.951T>G
ENST00000647654.1:c.591T>G ENSP00000497568.1:p.Leu197=
ENST00000647718.1:n.919T>G
ENST00000647859.1:c.864T>G ENSP00000497530.1:p.Leu288=
ENST00000647886.1:c.864T>G ENSP00000497188.1:p.Leu288=
ENST00000647980.1:c.858T>G ENSP00000498002.1:p.Leu286=
ENST00000648139.1:c.564T>G ENSP00000496818.1:p.Leu188=
ENST00000648276.1:c.108T>G ENSP00000497619.1:p.Leu36=
ENST00000648285.1:n.647T>G
ENST00000648298.1:c.864T>G ENSP00000496866.1:p.Leu288=
ENST00000648452.1:c.864T>G ENSP00000497268.1:p.Leu288=
ENST00000648459.1:c.261T>G ENSP00000498072.1:p.Leu87=
ENST00000648504.1:c.801T>G ENSP00000497668.1:p.Leu267=
ENST00000648711.1:c.489T>G ENSP00000498040.1:p.Leu163=
ENST00000648731.1:c.970T>G
ENST00000648834.1:c.864T>G ENSP00000497764.1:p.Leu288=
ENST00000648850.1:c.499T>G
ENST00000648855.1:n.788T>G
ENST00000648870.1:c.864T>G ENSP00000497599.1:p.Leu288=
ENST00000648922.1:c.864T>G ENSP00000497072.1:p.Leu288=
ENST00000648939.1:c.864T>G ENSP00000497442.1:p.Leu288=
ENST00000649097.1:c.864T>G ENSP00000497551.1:p.Leu288=
ENST00000649116.1:c.*421T>G ENSP00000497925.1:n.*421T>G
ENST00000649181.1:c.*226T>G ENSP00000498150.1:n.*226T>G
ENST00000649242.1:c.*468T>G ENSP00000497943.1:n.*468T>G
ENST00000649274.1:c.802T>G ENSP00000497032.1:n.802T>G
ENST00000649518.1:c.*468T>G ENSP00000498169.1:n.*468T>G
ENST00000649543.1:c.*468T>G ENSP00000496826.1:n.*468T>G
ENST00000649752.1:c.591T>G ENSP00000497267.1:p.Leu197=
ENST00000650076.1:c.211+24328T>G
ENST00000650471.1:c.*308T>G ENSP00000498027.1:n.*308T>G
ENST00000650604.1:c.291T>G ENSP00000497105.1:p.Leu97=
ENST00000373568.6:c.591T>G ENSP00000362669.2:p.Leu197=
ENST00000373573.7:c.864T>G ENSP00000362674.3:p.Leu288=
ENST00000373583.5:c.164+107452T>G ENSP00000362685.1:n.164+107452T>G
ENST00000373589.8:c.591T>G ENSP00000362691.4:p.Leu197=
ENST00000415409.5:c.786T>G ENSP00000396424.1:p.Leu262=
ENST00000436675.5:c.*119T>G ENSP00000416489.1:n.*119T>G
NM_001166418.1:c.591T>G NP_001159890.1:p.Leu197=
NM_018486.2:c.864T>G NP_060956.1:p.Leu288=
NR_051952.1:n.1064T>G
XM_011530986.1:c.864T>G XP_011529288.1:p.Leu288=
XM_011530987.1:c.864T>G XP_011529289.1:p.Leu288=
XM_011530988.1:c.864T>G XP_011529290.1:p.Leu288=
XR_938402.1:n.950T>G
XM_011530986.3:c.864T>G XP_011529288.3:p.Leu288=
XM_017029640.2:c.786T>G XP_016885129.2:p.Leu262=
XM_017029641.2:c.786T>G XP_016885130.2:p.Leu262=
XM_017029642.1:c.705T>G XP_016885131.1:p.Leu235=
XM_017029643.2:c.678T>G XP_016885132.1:p.Leu226=
XM_017029644.2:c.627T>G XP_016885133.1:p.Leu209=
XM_017029645.2:c.678T>G XP_016885134.1:p.Leu226=
XM_017029646.1:c.477T>G XP_016885135.1:p.Leu159=
XM_024452405.1:c.279T>G XP_024308173.1:p.Leu93=
XR_001755711.2:n.950T>G
XR_002958779.1:n.950T>G
XR_002958780.1:n.950T>G
XR_002958781.1:n.950T>G
XR_002958782.1:n.926T>G
XR_002958783.1:n.926T>G
XR_938402.3:n.950T>G
NM_018486.3:c.864T>G MANE Select NP_060956.1:p.Leu288=
NM_001166418.2:c.591T>G NP_001159890.1:p.Leu197=
NR_051952.2:n.804T>G