Canonical Allele Identifier: CA16043715
Gene: HDAC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 374393
ClinVar RCV Id: RCV000415301
dbSNP Id: rs1057518727
MyVariant Identifiers: chrX:g.71715029T>C (hg19) chrX:g.72495179T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72495179T>C , CM000685.2:g.72495179T>C GRCh38
NC_000023.10:g.71715029T>C , CM000685.1:g.71715029T>C GRCh37
NC_000023.9:g.71631754T>C NCBI36
NG_015851.1:g.82925A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373560.7:c.438-20450A>G ENSP00000362661.2:n.438-20450A>G
ENST00000373568.7:c.527A>G ENSP00000362669.3:p.Asp176Gly
ENST00000373571.6:c.527A>G ENSP00000362672.1:p.Asp176Gly
ENST00000373573.9:c.527A>G MANE Select ENSP00000362674.3:p.Asp176Gly
ENST00000373583.6:c.527A>G ENSP00000362685.2:p.Asp176Gly
ENST00000373589.9:c.254A>G ENSP00000362691.4:p.Asp85Gly
ENST00000412342.6:c.*225A>G ENSP00000400180.1:n.*225A>G
ENST00000415409.6:c.527A>G ENSP00000396424.2:p.Asp176Gly
ENST00000421523.6:c.368A>G ENSP00000398997.2:p.Asp123Gly
ENST00000436675.6:c.527A>G ENSP00000416489.1:p.Asp176Gly
ENST00000439122.7:c.527A>G ENSP00000414486.2:p.Asp176Gly
ENST00000478743.2:n.613A>G
ENST00000647594.1:c.527A>G ENSP00000496814.1:p.Asp176Gly
ENST00000647606.1:c.302A>G
ENST00000647613.1:c.*358A>G ENSP00000497911.1:n.*358A>G
ENST00000647641.1:n.614A>G
ENST00000647654.1:c.254A>G ENSP00000497568.1:p.Asp85Gly
ENST00000647718.1:n.582A>G
ENST00000647859.1:c.527A>G ENSP00000497530.1:p.Asp176Gly
ENST00000647886.1:c.527A>G ENSP00000497188.1:p.Asp176Gly
ENST00000647974.1:c.271A>G
ENST00000647980.1:c.527A>G ENSP00000498002.1:p.Asp176Gly
ENST00000648036.1:c.527A>G ENSP00000496994.1:p.Asp176Gly
ENST00000648139.1:c.438-30448A>G ENSP00000496818.1:n.438-30448A>G
ENST00000648285.1:n.310A>G
ENST00000648298.1:c.527A>G ENSP00000496866.1:p.Asp176Gly
ENST00000648452.1:c.527A>G ENSP00000497268.1:p.Asp176Gly
ENST00000648459.1:c.135-30448A>G ENSP00000498072.1:n.135-30448A>G
ENST00000648504.1:c.464A>G ENSP00000497668.1:p.Asp155Gly
ENST00000648577.1:c.527A>G ENSP00000497552.1:p.Asp176Gly
ENST00000648711.1:c.152A>G ENSP00000498040.1:p.Asp51Gly
ENST00000648731.1:c.447A>G
ENST00000648834.1:c.527A>G ENSP00000497764.1:p.Asp176Gly
ENST00000648855.1:n.451A>G
ENST00000648870.1:c.527A>G ENSP00000497599.1:p.Asp176Gly
ENST00000648922.1:c.527A>G ENSP00000497072.1:p.Asp176Gly
ENST00000648939.1:c.527A>G ENSP00000497442.1:p.Asp176Gly
ENST00000648962.1:c.527A>G ENSP00000497516.1:p.Asp176Gly
ENST00000649097.1:c.527A>G ENSP00000497551.1:p.Asp176Gly
ENST00000649116.1:c.*84A>G ENSP00000497925.1:n.*84A>G
ENST00000649181.1:c.438-4173A>G ENSP00000498150.1:n.438-4173A>G
ENST00000649242.1:c.527A>G ENSP00000497943.1:p.Asp176Gly
ENST00000649274.1:c.465A>G ENSP00000497032.1:n.465A>G
ENST00000649518.1:c.527A>G ENSP00000498169.1:p.Asp176Gly
ENST00000649543.1:c.527A>G ENSP00000496826.1:p.Asp176Gly
ENST00000649752.1:c.254A>G ENSP00000497267.1:p.Asp85Gly
ENST00000650076.1:c.1A>G
ENST00000650126.1:c.527A>G ENSP00000498144.1:p.Asp176Gly
ENST00000650471.1:c.385A>G ENSP00000498027.1:p.Ile129Val
ENST00000650604.1:c.165-30448A>G ENSP00000497105.1:n.165-30448A>G
ENST00000373559.8:c.254A>G ENSP00000362660.4:p.Asp85Gly
ENST00000373560.6:c.438-20450A>G ENSP00000362661.2:n.438-20450A>G
ENST00000373568.6:c.254A>G ENSP00000362669.2:p.Asp85Gly
ENST00000373571.5:c.527A>G ENSP00000362672.1:p.Asp176Gly
ENST00000373573.7:c.527A>G ENSP00000362674.3:p.Asp176Gly
ENST00000373583.5:c.164+76878A>G ENSP00000362685.1:n.164+76878A>G
ENST00000373589.8:c.254A>G ENSP00000362691.4:p.Asp85Gly
ENST00000412342.5:c.*225A>G ENSP00000400180.1:n.*225A>G
ENST00000415409.5:c.527A>G ENSP00000396424.1:p.Asp176Gly
ENST00000436675.5:c.527A>G ENSP00000416489.1:p.Asp176Gly
ENST00000439122.6:c.527A>G ENSP00000414486.2:p.Asp176Gly
ENST00000478743.1:n.467A>G
NM_001166418.1:c.254A>G NP_001159890.1:p.Asp85Gly
NM_001166419.1:c.527A>G NP_001159891.1:p.Asp176Gly
NM_001166448.1:c.254A>G NP_001159920.1:p.Asp85Gly
NM_018486.2:c.527A>G NP_060956.1:p.Asp176Gly
NR_051952.1:n.727A>G
XM_011530986.1:c.527A>G XP_011529288.1:p.Asp176Gly
XM_011530987.1:c.527A>G XP_011529289.1:p.Asp176Gly
XM_011530988.1:c.527A>G XP_011529290.1:p.Asp176Gly
XR_938402.1:n.613A>G
XM_011530986.3:c.527A>G XP_011529288.3:p.Asp176Gly
XM_017029640.2:c.527A>G XP_016885129.2:p.Asp176Gly
XM_017029641.2:c.527A>G XP_016885130.2:p.Asp176Gly
XM_017029642.1:c.368A>G XP_016885131.1:p.Asp123Gly
XM_017029643.2:c.552-30448A>G XP_016885132.1:n.552-30448A>G
XM_017029644.2:c.368A>G XP_016885133.1:p.Asp123Gly
XM_017029645.2:c.552-30448A>G XP_016885134.1:n.552-30448A>G
XM_017029646.1:c.140A>G XP_016885135.1:p.Asp47Gly
XM_017029647.2:c.527A>G XP_016885136.2:p.Asp176Gly
XM_024452405.1:c.-245A>G XP_024308173.1:n.-245A>G
XR_001755711.2:n.613A>G
XR_002958779.1:n.613A>G
XR_002958780.1:n.613A>G
XR_002958781.1:n.613A>G
XR_002958782.1:n.589A>G
XR_002958783.1:n.589A>G
XR_938402.3:n.613A>G
NM_018486.3:c.527A>G MANE Select NP_060956.1:p.Asp176Gly
NM_001166418.2:c.254A>G NP_001159890.1:p.Asp85Gly
NM_001166419.2:c.527A>G NP_001159891.1:p.Asp176Gly
NM_001166448.2:c.254A>G NP_001159920.1:p.Asp85Gly
NR_051952.2:n.467A>G
Search 100 bp 5'
Search 100 bp 3'