Canonical Allele Identifier: CA413574722
Gene: HDAC8 HGNC NCBI

Linked Data

dbSNP Id: rs1388554395
gnomAD v4: X-72568008-T-G
MyVariant Identifiers: chrX:g.71787858T>G (hg19) chrX:g.72568008T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72568008T>G , CM000685.2:g.72568008T>G GRCh38
NC_000023.10:g.71787858T>G , CM000685.1:g.71787858T>G GRCh37
NC_000023.9:g.71704583T>G NCBI36
NG_015851.1:g.10096A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373554.6:c.318A>C ENSP00000362655.1:p.Glu106Asp
ENST00000373556.8:c.318A>C ENSP00000362657.3:p.Glu106Asp
ENST00000373560.7:c.318A>C ENSP00000362661.2:p.Glu106Asp
ENST00000373568.7:c.318A>C ENSP00000362669.3:p.Glu106Asp
ENST00000373571.6:c.318A>C ENSP00000362672.1:p.Glu106Asp
ENST00000373573.9:c.318A>C MANE Select ENSP00000362674.3:p.Glu106Asp
ENST00000373583.6:c.318A>C ENSP00000362685.2:p.Glu106Asp
ENST00000373589.9:c.164+4049A>C ENSP00000362691.4:n.164+4049A>C
ENST00000412342.6:c.*16A>C ENSP00000400180.1:n.*16A>C
ENST00000415409.6:c.318A>C ENSP00000396424.2:p.Glu106Asp
ENST00000421523.6:c.159A>C ENSP00000398997.2:p.Glu53Asp
ENST00000436675.6:c.318A>C ENSP00000416489.1:p.Glu106Asp
ENST00000439122.7:c.318A>C ENSP00000414486.2:p.Glu106Asp
ENST00000478743.2:n.404A>C
ENST00000647594.1:c.318A>C ENSP00000496814.1:p.Glu106Asp
ENST00000647606.1:c.61A>C
ENST00000647613.1:c.*149A>C ENSP00000497911.1:n.*149A>C
ENST00000647641.1:n.405A>C
ENST00000647654.1:c.164+4049A>C ENSP00000497568.1:n.164+4049A>C
ENST00000647718.1:n.373A>C
ENST00000647859.1:c.318A>C ENSP00000497530.1:p.Glu106Asp
ENST00000647886.1:c.318A>C ENSP00000497188.1:p.Glu106Asp
ENST00000647974.1:c.62A>C
ENST00000647980.1:c.318A>C ENSP00000498002.1:p.Glu106Asp
ENST00000648036.1:c.318A>C ENSP00000496994.1:p.Glu106Asp
ENST00000648101.1:n.398A>C
ENST00000648139.1:c.318A>C ENSP00000496818.1:p.Glu106Asp
ENST00000648285.1:n.220+4049A>C
ENST00000648298.1:c.318A>C ENSP00000496866.1:p.Glu106Asp
ENST00000648452.1:c.318A>C ENSP00000497268.1:p.Glu106Asp
ENST00000648459.1:c.15A>C ENSP00000498072.1:p.Glu5Asp
ENST00000648504.1:c.255A>C ENSP00000497668.1:p.Glu85Asp
ENST00000648577.1:c.318A>C ENSP00000497552.1:p.Glu106Asp
ENST00000648711.1:c.62+4049A>C ENSP00000498040.1:n.62+4049A>C
ENST00000648731.1:c.238A>C
ENST00000648834.1:c.318A>C ENSP00000497764.1:p.Glu106Asp
ENST00000648855.1:n.242A>C
ENST00000648870.1:c.318A>C ENSP00000497599.1:p.Glu106Asp
ENST00000648922.1:c.318A>C ENSP00000497072.1:p.Glu106Asp
ENST00000648939.1:c.318A>C ENSP00000497442.1:p.Glu106Asp
ENST00000648962.1:c.318A>C ENSP00000497516.1:p.Glu106Asp
ENST00000649097.1:c.318A>C ENSP00000497551.1:p.Glu106Asp
ENST00000649116.1:c.318A>C ENSP00000497925.1:p.Glu106Asp
ENST00000649181.1:c.318A>C ENSP00000498150.1:p.Glu106Asp
ENST00000649242.1:c.318A>C ENSP00000497943.1:p.Glu106Asp
ENST00000649274.1:c.256A>C ENSP00000497032.1:n.256A>C
ENST00000649518.1:c.318A>C ENSP00000498169.1:p.Glu106Asp
ENST00000649543.1:c.318A>C ENSP00000496826.1:p.Glu106Asp
ENST00000649752.1:c.164+4049A>C ENSP00000497267.1:n.164+4049A>C
ENST00000650126.1:c.318A>C ENSP00000498144.1:p.Glu106Asp
ENST00000650471.1:c.295+746A>C ENSP00000498027.1:n.295+746A>C
ENST00000650604.1:c.164+4049A>C ENSP00000497105.1:n.164+4049A>C
ENST00000650636.1:c.318A>C ENSP00000497191.1:p.Glu106Asp
ENST00000373554.5:c.318A>C ENSP00000362655.1:p.Glu106Asp
ENST00000373556.7:c.318A>C ENSP00000362657.3:p.Glu106Asp
ENST00000373559.8:c.164+4049A>C ENSP00000362660.4:n.164+4049A>C
ENST00000373560.6:c.318A>C ENSP00000362661.2:p.Glu106Asp
ENST00000373568.6:c.164+4049A>C ENSP00000362669.2:n.164+4049A>C
ENST00000373571.5:c.318A>C ENSP00000362672.1:p.Glu106Asp
ENST00000373573.7:c.318A>C ENSP00000362674.3:p.Glu106Asp
ENST00000373583.5:c.164+4049A>C ENSP00000362685.1:n.164+4049A>C
ENST00000373589.8:c.164+4049A>C ENSP00000362691.4:n.164+4049A>C
ENST00000412342.5:c.*16A>C ENSP00000400180.1:n.*16A>C
ENST00000415409.5:c.318A>C ENSP00000396424.1:p.Glu106Asp
ENST00000421523.5:c.201A>C ENSP00000398997.1:p.Glu67Asp
ENST00000436675.5:c.318A>C ENSP00000416489.1:p.Glu106Asp
ENST00000439122.6:c.318A>C ENSP00000414486.2:p.Glu106Asp
ENST00000478743.1:n.377+746A>C
NM_001166418.1:c.164+4049A>C NP_001159890.1:n.164+4049A>C
NM_001166419.1:c.318A>C NP_001159891.1:p.Glu106Asp
NM_001166420.1:c.318A>C NP_001159892.1:p.Glu106Asp
NM_001166422.1:c.318A>C NP_001159894.1:p.Glu106Asp
NM_001166448.1:c.164+4049A>C NP_001159920.1:n.164+4049A>C
NM_018486.2:c.318A>C NP_060956.1:p.Glu106Asp
NR_051952.1:n.637+746A>C
XM_011530986.1:c.318A>C XP_011529288.1:p.Glu106Asp
XM_011530987.1:c.318A>C XP_011529289.1:p.Glu106Asp
XM_011530988.1:c.318A>C XP_011529290.1:p.Glu106Asp
XR_938402.1:n.404A>C
XM_011530986.3:c.318A>C XP_011529288.3:p.Glu106Asp
XM_017029640.2:c.318A>C XP_016885129.2:p.Glu106Asp
XM_017029641.2:c.318A>C XP_016885130.2:p.Glu106Asp
XM_017029642.1:c.278+4049A>C XP_016885131.1:n.278+4049A>C
XM_017029643.2:c.432A>C XP_016885132.1:p.Glu144Asp
XM_017029644.2:c.278+4049A>C XP_016885133.1:n.278+4049A>C
XM_017029645.2:c.432A>C XP_016885134.1:p.Glu144Asp
XM_017029646.1:c.-70A>C XP_016885135.1:n.-70A>C
XM_017029647.2:c.318A>C XP_016885136.2:p.Glu106Asp
XM_024452405.1:c.-454A>C XP_024308173.1:n.-454A>C
XR_001755711.2:n.404A>C
XR_002958779.1:n.404A>C
XR_002958780.1:n.404A>C
XR_002958781.1:n.404A>C
XR_002958782.1:n.499+4049A>C
XR_002958783.1:n.499+4049A>C
XR_938402.3:n.404A>C
NM_018486.3:c.318A>C MANE Select NP_060956.1:p.Glu106Asp
NM_001166418.2:c.164+4049A>C NP_001159890.1:n.164+4049A>C
NM_001166419.2:c.318A>C NP_001159891.1:p.Glu106Asp
NM_001166422.2:c.318A>C NP_001159894.1:p.Glu106Asp
NM_001166448.2:c.164+4049A>C NP_001159920.1:n.164+4049A>C
NR_051952.2:n.377+746A>C
NM_001166420.2:c.318A>C NP_001159892.1:p.Glu106Asp
Search 100 bp 5'
Search 100 bp 3'