Canonical Allele Identifier: CA413642766

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684430C>A (hg19) ; chrX:g.72464580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464580C>A , CM000685.2:g.72464580C>A	GRCh38
NC_000023.10:g.71684430C>A , CM000685.1:g.71684430C>A	GRCh37
NC_000023.9:g.71601155C>A	NCBI36
NG_015851.1:g.113524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373568.7:c.889G>T	ENSP00000362669.3:p.Ala297Ser
ENST00000373573.9:c.889G>T MANE Select	ENSP00000362674.3:p.Ala297Ser
ENST00000373583.6:c.811G>T	ENSP00000362685.2:p.Ala271Ser
ENST00000373589.9:c.616G>T	ENSP00000362691.4:p.Ala206Ser
ENST00000415409.6:c.889G>T	ENSP00000396424.2:p.Ala297Ser
ENST00000436675.6:c.*144G>T	ENSP00000416489.1:n.*144G>T
ENST00000478743.2:n.975G>T
ENST00000647594.1:c.889G>T	ENSP00000496814.1:p.Ala297Ser
ENST00000647606.1:c.664G>T
ENST00000647613.1:c.*642G>T	ENSP00000497911.1:n.*642G>T
ENST00000647641.1:n.976G>T
ENST00000647654.1:c.616G>T	ENSP00000497568.1:p.Ala206Ser
ENST00000647718.1:n.944G>T
ENST00000647859.1:c.889G>T	ENSP00000497530.1:p.Ala297Ser
ENST00000647886.1:c.889G>T	ENSP00000497188.1:p.Ala297Ser
ENST00000647980.1:c.883G>T	ENSP00000498002.1:p.Ala295Ser
ENST00000648139.1:c.589G>T	ENSP00000496818.1:p.Ala197Ser
ENST00000648276.1:c.133G>T	ENSP00000497619.1:p.Ala45Ser
ENST00000648285.1:n.672G>T
ENST00000648298.1:c.889G>T	ENSP00000496866.1:p.Ala297Ser
ENST00000648452.1:c.889G>T	ENSP00000497268.1:p.Ala297Ser
ENST00000648459.1:c.286G>T	ENSP00000498072.1:p.Ala96Ser
ENST00000648504.1:c.826G>T	ENSP00000497668.1:p.Ala276Ser
ENST00000648711.1:c.514G>T	ENSP00000498040.1:p.Ala172Ser
ENST00000648731.1:c.995G>T
ENST00000648834.1:c.889G>T	ENSP00000497764.1:p.Ala297Ser
ENST00000648850.1:c.524G>T
ENST00000648855.1:n.813G>T
ENST00000648870.1:c.889G>T	ENSP00000497599.1:p.Ala297Ser
ENST00000648922.1:c.889G>T	ENSP00000497072.1:p.Ala297Ser
ENST00000648939.1:c.889G>T	ENSP00000497442.1:p.Ala297Ser
ENST00000649097.1:c.889G>T	ENSP00000497551.1:p.Ala297Ser
ENST00000649116.1:c.*446G>T	ENSP00000497925.1:n.*446G>T
ENST00000649181.1:c.*251G>T	ENSP00000498150.1:n.*251G>T
ENST00000649242.1:c.*493G>T	ENSP00000497943.1:n.*493G>T
ENST00000649274.1:c.827G>T	ENSP00000497032.1:n.827G>T
ENST00000649518.1:c.*493G>T	ENSP00000498169.1:n.*493G>T
ENST00000649543.1:c.*493G>T	ENSP00000496826.1:n.*493G>T
ENST00000649752.1:c.616G>T	ENSP00000497267.1:p.Ala206Ser
ENST00000650076.1:c.211+24353G>T
ENST00000650471.1:c.*333G>T	ENSP00000498027.1:n.*333G>T
ENST00000650604.1:c.316G>T	ENSP00000497105.1:p.Ala106Ser
ENST00000373568.6:c.616G>T	ENSP00000362669.2:p.Ala206Ser
ENST00000373573.7:c.889G>T	ENSP00000362674.3:p.Ala297Ser
ENST00000373583.5:c.164+107477G>T	ENSP00000362685.1:n.164+107477G>T
ENST00000373589.8:c.616G>T	ENSP00000362691.4:p.Ala206Ser
ENST00000415409.5:c.811G>T	ENSP00000396424.1:p.Ala271Ser
ENST00000436675.5:c.*144G>T	ENSP00000416489.1:n.*144G>T
NM_001166418.1:c.616G>T	NP_001159890.1:p.Ala206Ser
NM_018486.2:c.889G>T	NP_060956.1:p.Ala297Ser
NR_051952.1:n.1089G>T
XM_011530986.1:c.889G>T	XP_011529288.1:p.Ala297Ser
XM_011530987.1:c.889G>T	XP_011529289.1:p.Ala297Ser
XM_011530988.1:c.889G>T	XP_011529290.1:p.Ala297Ser
XR_938402.1:n.975G>T
XM_011530986.3:c.889G>T	XP_011529288.3:p.Ala297Ser
XM_017029640.2:c.811G>T	XP_016885129.2:p.Ala271Ser
XM_017029641.2:c.811G>T	XP_016885130.2:p.Ala271Ser
XM_017029642.1:c.730G>T	XP_016885131.1:p.Ala244Ser
XM_017029643.2:c.703G>T	XP_016885132.1:p.Ala235Ser
XM_017029644.2:c.652G>T	XP_016885133.1:p.Ala218Ser
XM_017029645.2:c.703G>T	XP_016885134.1:p.Ala235Ser
XM_017029646.1:c.502G>T	XP_016885135.1:p.Ala168Ser
XM_024452405.1:c.304G>T	XP_024308173.1:p.Ala102Ser
XR_001755711.2:n.975G>T
XR_002958779.1:n.975G>T
XR_002958780.1:n.975G>T
XR_002958781.1:n.975G>T
XR_002958782.1:n.951G>T
XR_002958783.1:n.951G>T
XR_938402.3:n.975G>T
NM_018486.3:c.889G>T MANE Select	NP_060956.1:p.Ala297Ser
NM_001166418.2:c.616G>T	NP_001159890.1:p.Ala206Ser
NR_051952.2:n.829G>T