Canonical Allele Identifier: CA413642905

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684458A>C (hg19) ; chrX:g.72464608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464608A>C , CM000685.2:g.72464608A>C	GRCh38
NC_000023.10:g.71684458A>C , CM000685.1:g.71684458A>C	GRCh37
NC_000023.9:g.71601183A>C	NCBI36
NG_015851.1:g.113496T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.861T>G	ENSP00000362669.3:p.Cys287Trp
ENST00000373573.9:c.861T>G MANE Select	ENSP00000362674.3:p.Cys287Trp
ENST00000373583.6:c.783T>G	ENSP00000362685.2:p.Cys261Trp
ENST00000373589.9:c.588T>G	ENSP00000362691.4:p.Cys196Trp
ENST00000415409.6:c.861T>G	ENSP00000396424.2:p.Cys287Trp
ENST00000436675.6:c.*116T>G	ENSP00000416489.1:n.*116T>G
ENST00000478743.2:n.947T>G
ENST00000647594.1:c.861T>G	ENSP00000496814.1:p.Cys287Trp
ENST00000647606.1:c.636T>G
ENST00000647613.1:c.*614T>G	ENSP00000497911.1:n.*614T>G
ENST00000647641.1:n.948T>G
ENST00000647654.1:c.588T>G	ENSP00000497568.1:p.Cys196Trp
ENST00000647718.1:n.916T>G
ENST00000647859.1:c.861T>G	ENSP00000497530.1:p.Cys287Trp
ENST00000647886.1:c.861T>G	ENSP00000497188.1:p.Cys287Trp
ENST00000647980.1:c.855T>G	ENSP00000498002.1:p.Cys285Trp
ENST00000648139.1:c.561T>G	ENSP00000496818.1:p.Cys187Trp
ENST00000648276.1:c.105T>G	ENSP00000497619.1:p.Cys35Trp
ENST00000648285.1:n.644T>G
ENST00000648298.1:c.861T>G	ENSP00000496866.1:p.Cys287Trp
ENST00000648452.1:c.861T>G	ENSP00000497268.1:p.Cys287Trp
ENST00000648459.1:c.258T>G	ENSP00000498072.1:p.Cys86Trp
ENST00000648504.1:c.798T>G	ENSP00000497668.1:p.Cys266Trp
ENST00000648711.1:c.486T>G	ENSP00000498040.1:p.Cys162Trp
ENST00000648731.1:c.967T>G
ENST00000648834.1:c.861T>G	ENSP00000497764.1:p.Cys287Trp
ENST00000648850.1:c.496T>G
ENST00000648855.1:n.785T>G
ENST00000648870.1:c.861T>G	ENSP00000497599.1:p.Cys287Trp
ENST00000648922.1:c.861T>G	ENSP00000497072.1:p.Cys287Trp
ENST00000648939.1:c.861T>G	ENSP00000497442.1:p.Cys287Trp
ENST00000649097.1:c.861T>G	ENSP00000497551.1:p.Cys287Trp
ENST00000649116.1:c.*418T>G	ENSP00000497925.1:n.*418T>G
ENST00000649181.1:c.*223T>G	ENSP00000498150.1:n.*223T>G
ENST00000649242.1:c.*465T>G	ENSP00000497943.1:n.*465T>G
ENST00000649274.1:c.799T>G	ENSP00000497032.1:n.799T>G
ENST00000649518.1:c.*465T>G	ENSP00000498169.1:n.*465T>G
ENST00000649543.1:c.*465T>G	ENSP00000496826.1:n.*465T>G
ENST00000649752.1:c.588T>G	ENSP00000497267.1:p.Cys196Trp
ENST00000650076.1:c.211+24325T>G
ENST00000650471.1:c.*305T>G	ENSP00000498027.1:n.*305T>G
ENST00000650604.1:c.288T>G	ENSP00000497105.1:p.Cys96Trp
ENST00000373568.6:c.588T>G	ENSP00000362669.2:p.Cys196Trp
ENST00000373573.7:c.861T>G	ENSP00000362674.3:p.Cys287Trp
ENST00000373583.5:c.164+107449T>G	ENSP00000362685.1:n.164+107449T>G
ENST00000373589.8:c.588T>G	ENSP00000362691.4:p.Cys196Trp
ENST00000415409.5:c.783T>G	ENSP00000396424.1:p.Cys261Trp
ENST00000436675.5:c.*116T>G	ENSP00000416489.1:n.*116T>G
NM_001166418.1:c.588T>G	NP_001159890.1:p.Cys196Trp
NM_018486.2:c.861T>G	NP_060956.1:p.Cys287Trp
NR_051952.1:n.1061T>G
XM_011530986.1:c.861T>G	XP_011529288.1:p.Cys287Trp
XM_011530987.1:c.861T>G	XP_011529289.1:p.Cys287Trp
XM_011530988.1:c.861T>G	XP_011529290.1:p.Cys287Trp
XR_938402.1:n.947T>G
XM_011530986.3:c.861T>G	XP_011529288.3:p.Cys287Trp
XM_017029640.2:c.783T>G	XP_016885129.2:p.Cys261Trp
XM_017029641.2:c.783T>G	XP_016885130.2:p.Cys261Trp
XM_017029642.1:c.702T>G	XP_016885131.1:p.Cys234Trp
XM_017029643.2:c.675T>G	XP_016885132.1:p.Cys225Trp
XM_017029644.2:c.624T>G	XP_016885133.1:p.Cys208Trp
XM_017029645.2:c.675T>G	XP_016885134.1:p.Cys225Trp
XM_017029646.1:c.474T>G	XP_016885135.1:p.Cys158Trp
XM_024452405.1:c.276T>G	XP_024308173.1:p.Cys92Trp
XR_001755711.2:n.947T>G
XR_002958779.1:n.947T>G
XR_002958780.1:n.947T>G
XR_002958781.1:n.947T>G
XR_002958782.1:n.923T>G
XR_002958783.1:n.923T>G
XR_938402.3:n.947T>G
NM_018486.3:c.861T>G MANE Select	NP_060956.1:p.Cys287Trp
NM_001166418.2:c.588T>G	NP_001159890.1:p.Cys196Trp
NR_051952.2:n.801T>G