Canonical Allele Identifier: CA413642996

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684478G>C (hg19) ; chrX:g.72464628G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464628G>C , CM000685.2:g.72464628G>C	GRCh38
NC_000023.10:g.71684478G>C , CM000685.1:g.71684478G>C	GRCh37
NC_000023.9:g.71601203G>C	NCBI36
NG_015851.1:g.113476C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.841C>G	ENSP00000362669.3:p.Pro281Ala
ENST00000373573.9:c.841C>G MANE Select	ENSP00000362674.3:p.Pro281Ala
ENST00000373583.6:c.763C>G	ENSP00000362685.2:p.Pro255Ala
ENST00000373589.9:c.568C>G	ENSP00000362691.4:p.Pro190Ala
ENST00000415409.6:c.841C>G	ENSP00000396424.2:p.Pro281Ala
ENST00000436675.6:c.*96C>G	ENSP00000416489.1:n.*96C>G
ENST00000478743.2:n.927C>G
ENST00000647594.1:c.841C>G	ENSP00000496814.1:p.Pro281Ala
ENST00000647606.1:c.616C>G
ENST00000647613.1:c.*594C>G	ENSP00000497911.1:n.*594C>G
ENST00000647641.1:n.928C>G
ENST00000647654.1:c.568C>G	ENSP00000497568.1:p.Pro190Ala
ENST00000647718.1:n.896C>G
ENST00000647859.1:c.841C>G	ENSP00000497530.1:p.Pro281Ala
ENST00000647886.1:c.841C>G	ENSP00000497188.1:p.Pro281Ala
ENST00000647980.1:c.835C>G	ENSP00000498002.1:p.Pro279Ala
ENST00000648139.1:c.541C>G	ENSP00000496818.1:p.Pro181Ala
ENST00000648276.1:c.85C>G	ENSP00000497619.1:p.Pro29Ala
ENST00000648285.1:n.624C>G
ENST00000648298.1:c.841C>G	ENSP00000496866.1:p.Pro281Ala
ENST00000648452.1:c.841C>G	ENSP00000497268.1:p.Pro281Ala
ENST00000648459.1:c.238C>G	ENSP00000498072.1:p.Pro80Ala
ENST00000648504.1:c.778C>G	ENSP00000497668.1:p.Pro260Ala
ENST00000648711.1:c.466C>G	ENSP00000498040.1:p.Pro156Ala
ENST00000648731.1:c.947C>G
ENST00000648834.1:c.841C>G	ENSP00000497764.1:p.Pro281Ala
ENST00000648850.1:c.476C>G
ENST00000648855.1:n.765C>G
ENST00000648870.1:c.841C>G	ENSP00000497599.1:p.Pro281Ala
ENST00000648922.1:c.841C>G	ENSP00000497072.1:p.Pro281Ala
ENST00000648939.1:c.841C>G	ENSP00000497442.1:p.Pro281Ala
ENST00000649097.1:c.841C>G	ENSP00000497551.1:p.Pro281Ala
ENST00000649116.1:c.*398C>G	ENSP00000497925.1:n.*398C>G
ENST00000649181.1:c.*203C>G	ENSP00000498150.1:n.*203C>G
ENST00000649242.1:c.*445C>G	ENSP00000497943.1:n.*445C>G
ENST00000649274.1:c.779C>G	ENSP00000497032.1:n.779C>G
ENST00000649518.1:c.*445C>G	ENSP00000498169.1:n.*445C>G
ENST00000649543.1:c.*445C>G	ENSP00000496826.1:n.*445C>G
ENST00000649752.1:c.568C>G	ENSP00000497267.1:p.Pro190Ala
ENST00000650076.1:c.211+24305C>G
ENST00000650471.1:c.*285C>G	ENSP00000498027.1:n.*285C>G
ENST00000650604.1:c.268C>G	ENSP00000497105.1:p.Pro90Ala
ENST00000373568.6:c.568C>G	ENSP00000362669.2:p.Pro190Ala
ENST00000373573.7:c.841C>G	ENSP00000362674.3:p.Pro281Ala
ENST00000373583.5:c.164+107429C>G	ENSP00000362685.1:n.164+107429C>G
ENST00000373589.8:c.568C>G	ENSP00000362691.4:p.Pro190Ala
ENST00000415409.5:c.763C>G	ENSP00000396424.1:p.Pro255Ala
ENST00000436675.5:c.*96C>G	ENSP00000416489.1:n.*96C>G
NM_001166418.1:c.568C>G	NP_001159890.1:p.Pro190Ala
NM_018486.2:c.841C>G	NP_060956.1:p.Pro281Ala
NR_051952.1:n.1041C>G
XM_011530986.1:c.841C>G	XP_011529288.1:p.Pro281Ala
XM_011530987.1:c.841C>G	XP_011529289.1:p.Pro281Ala
XM_011530988.1:c.841C>G	XP_011529290.1:p.Pro281Ala
XR_938402.1:n.927C>G
XM_011530986.3:c.841C>G	XP_011529288.3:p.Pro281Ala
XM_017029640.2:c.763C>G	XP_016885129.2:p.Pro255Ala
XM_017029641.2:c.763C>G	XP_016885130.2:p.Pro255Ala
XM_017029642.1:c.682C>G	XP_016885131.1:p.Pro228Ala
XM_017029643.2:c.655C>G	XP_016885132.1:p.Pro219Ala
XM_017029644.2:c.604C>G	XP_016885133.1:p.Pro202Ala
XM_017029645.2:c.655C>G	XP_016885134.1:p.Pro219Ala
XM_017029646.1:c.454C>G	XP_016885135.1:p.Pro152Ala
XM_024452405.1:c.256C>G	XP_024308173.1:p.Pro86Ala
XR_001755711.2:n.927C>G
XR_002958779.1:n.927C>G
XR_002958780.1:n.927C>G
XR_002958781.1:n.927C>G
XR_002958782.1:n.903C>G
XR_002958783.1:n.903C>G
XR_938402.3:n.927C>G
NM_018486.3:c.841C>G MANE Select	NP_060956.1:p.Pro281Ala
NM_001166418.2:c.568C>G	NP_001159890.1:p.Pro190Ala
NR_051952.2:n.781C>G