Canonical Allele Identifier: CA516779165
Gene: HDAC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72462082G>A , CM000685.2:g.72462082G>A GRCh38
NC_000023.10:g.71681932G>A , CM000685.1:g.71681932G>A GRCh37
NC_000023.9:g.71598657G>A NCBI36
NG_015851.1:g.116022C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018486.3:c.927C>T MANE Select NP_060956.1:p.Ala309=
ENST00000373573.9:c.927C>T MANE Select ENSP00000362674.3:p.Ala309=
NM_001166418.1:c.654C>T NP_001159890.1:p.Ala218=
NM_001166418.2:c.654C>T NP_001159890.1:p.Ala218=
NM_018486.2:c.927C>T NP_060956.1:p.Ala309=
NR_051952.1:n.1127C>T
NR_051952.2:n.867C>T
ENST00000373568.6:c.654C>T ENSP00000362669.2:p.Ala218=
ENST00000373568.7:c.927C>T ENSP00000362669.3:p.Ala309=
ENST00000373573.7:c.927C>T ENSP00000362674.3:p.Ala309=
ENST00000373583.5:c.164+109975C>T ENSP00000362685.1:n.164+109975C>T
ENST00000373583.6:c.849C>T ENSP00000362685.2:p.Ala283=
ENST00000373589.8:c.654C>T ENSP00000362691.4:p.Ala218=
ENST00000373589.9:c.654C>T ENSP00000362691.4:p.Ala218=
ENST00000415409.5:c.849C>T ENSP00000396424.1:p.Ala283=
ENST00000415409.6:c.927C>T ENSP00000396424.2:p.Ala309=
ENST00000436675.5:c.*182C>T ENSP00000416489.1:n.*182C>T
ENST00000436675.6:c.*182C>T ENSP00000416489.1:n.*182C>T
ENST00000470998.1:n.100C>T
ENST00000470998.2:c.104C>T
ENST00000478743.2:n.1010C>T
ENST00000647594.1:c.927C>T ENSP00000496814.1:p.Ala309=
ENST00000647606.1:c.702C>T
ENST00000647613.1:c.*680C>T ENSP00000497911.1:n.*680C>T
ENST00000647641.1:n.1014C>T
ENST00000647654.1:c.654C>T ENSP00000497568.1:p.Ala218=
ENST00000647718.1:n.3442C>T
ENST00000647859.1:c.927C>T ENSP00000497530.1:p.Ala309=
ENST00000647886.1:c.927C>T ENSP00000497188.1:p.Ala309=
ENST00000647980.1:c.921C>T ENSP00000498002.1:p.Ala307=
ENST00000648139.1:c.627C>T ENSP00000496818.1:p.Ala209=
ENST00000648276.1:c.171C>T ENSP00000497619.1:p.Ala57=
ENST00000648298.1:c.927C>T ENSP00000496866.1:p.Ala309=
ENST00000648452.1:c.927C>T ENSP00000497268.1:p.Ala309=
ENST00000648459.1:c.324C>T ENSP00000498072.1:p.Ala108=
ENST00000648504.1:c.868C>T ENSP00000497668.1:n.868C>T
ENST00000648711.1:c.556C>T ENSP00000498040.1:n.556C>T
ENST00000648731.1:c.1033C>T
ENST00000648834.1:c.*7C>T ENSP00000497764.1:n.*7C>T
ENST00000648850.1:c.566C>T
ENST00000648855.1:n.851C>T
ENST00000648870.1:c.927C>T ENSP00000497599.1:p.Ala309=
ENST00000648922.1:c.927C>T ENSP00000497072.1:p.Ala309=
ENST00000648939.1:c.*7C>T ENSP00000497442.1:n.*7C>T
ENST00000649097.1:c.927C>T ENSP00000497551.1:p.Ala309=
ENST00000649116.1:c.*484C>T ENSP00000497925.1:n.*484C>T
ENST00000649181.1:c.*289C>T ENSP00000498150.1:n.*289C>T
ENST00000649242.1:c.*612C>T ENSP00000497943.1:n.*612C>T
ENST00000649274.1:c.865C>T ENSP00000497032.1:n.865C>T
ENST00000649518.1:c.*531C>T ENSP00000498169.1:n.*531C>T
ENST00000649543.1:c.*531C>T ENSP00000496826.1:n.*531C>T
ENST00000649752.1:c.654C>T ENSP00000497267.1:p.Ala218=
ENST00000650076.1:c.211+26851C>T
ENST00000650471.1:c.*371C>T ENSP00000498027.1:n.*371C>T
ENST00000650604.1:c.354C>T ENSP00000497105.1:p.Ala118=
XM_011530986.1:c.927C>T XP_011529288.1:p.Ala309=
XM_011530986.3:c.927C>T XP_011529288.3:p.Ala309=
XM_011530987.1:c.927C>T XP_011529289.1:p.Ala309=
XM_011530988.1:c.927C>T XP_011529290.1:p.Ala309=
XM_017029640.2:c.849C>T XP_016885129.2:p.Ala283=
XM_017029641.2:c.849C>T XP_016885130.2:p.Ala283=
XM_017029642.1:c.768C>T XP_016885131.1:p.Ala256=
XM_017029643.2:c.741C>T XP_016885132.1:p.Ala247=
XM_017029644.2:c.690C>T XP_016885133.1:p.Ala230=
XM_017029645.2:c.741C>T XP_016885134.1:p.Ala247=
XM_017029646.1:c.540C>T XP_016885135.1:p.Ala180=
XM_024452405.1:c.342C>T XP_024308173.1:p.Ala114=
XR_001755711.2:n.1013C>T
XR_002958779.1:n.1013C>T
XR_002958780.1:n.1017C>T
XR_002958781.1:n.1017C>T
XR_002958782.1:n.3186C>T
XR_002958783.1:n.993C>T
XR_938402.1:n.1013C>T
XR_938402.3:n.1013C>T