Canonical Allele Identifier: CA413643024

Gene: HDAC8

Linked Data

• MyVariant Identifiers: chrX:g.71684484T>G (hg19) ; chrX:g.72464634T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464634T>G , CM000685.2:g.72464634T>G	GRCh38
NC_000023.10:g.71684484T>G , CM000685.1:g.71684484T>G	GRCh37
NC_000023.9:g.71601209T>G	NCBI36
NG_015851.1:g.113470A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.835A>C	ENSP00000362669.3:p.Met279Leu
ENST00000373573.9:c.835A>C MANE Select	ENSP00000362674.3:p.Met279Leu
ENST00000373583.6:c.757A>C	ENSP00000362685.2:p.Met253Leu
ENST00000373589.9:c.562A>C	ENSP00000362691.4:p.Met188Leu
ENST00000415409.6:c.835A>C	ENSP00000396424.2:p.Met279Leu
ENST00000436675.6:c.*90A>C	ENSP00000416489.1:n.*90A>C
ENST00000478743.2:n.921A>C
ENST00000647594.1:c.835A>C	ENSP00000496814.1:p.Met279Leu
ENST00000647606.1:c.610A>C
ENST00000647613.1:c.*588A>C	ENSP00000497911.1:n.*588A>C
ENST00000647641.1:n.922A>C
ENST00000647654.1:c.562A>C	ENSP00000497568.1:p.Met188Leu
ENST00000647718.1:n.890A>C
ENST00000647859.1:c.835A>C	ENSP00000497530.1:p.Met279Leu
ENST00000647886.1:c.835A>C	ENSP00000497188.1:p.Met279Leu
ENST00000647980.1:c.829A>C	ENSP00000498002.1:p.Met277Leu
ENST00000648139.1:c.535A>C	ENSP00000496818.1:p.Met179Leu
ENST00000648276.1:c.79A>C	ENSP00000497619.1:p.Met27Leu
ENST00000648285.1:n.618A>C
ENST00000648298.1:c.835A>C	ENSP00000496866.1:p.Met279Leu
ENST00000648452.1:c.835A>C	ENSP00000497268.1:p.Met279Leu
ENST00000648459.1:c.232A>C	ENSP00000498072.1:p.Met78Leu
ENST00000648504.1:c.772A>C	ENSP00000497668.1:p.Met258Leu
ENST00000648711.1:c.460A>C	ENSP00000498040.1:p.Met154Leu
ENST00000648731.1:c.941A>C
ENST00000648834.1:c.835A>C	ENSP00000497764.1:p.Met279Leu
ENST00000648850.1:c.470A>C
ENST00000648855.1:n.759A>C
ENST00000648870.1:c.835A>C	ENSP00000497599.1:p.Met279Leu
ENST00000648922.1:c.835A>C	ENSP00000497072.1:p.Met279Leu
ENST00000648939.1:c.835A>C	ENSP00000497442.1:p.Met279Leu
ENST00000649097.1:c.835A>C	ENSP00000497551.1:p.Met279Leu
ENST00000649116.1:c.*392A>C	ENSP00000497925.1:n.*392A>C
ENST00000649181.1:c.*197A>C	ENSP00000498150.1:n.*197A>C
ENST00000649242.1:c.*439A>C	ENSP00000497943.1:n.*439A>C
ENST00000649274.1:c.773A>C	ENSP00000497032.1:n.773A>C
ENST00000649518.1:c.*439A>C	ENSP00000498169.1:n.*439A>C
ENST00000649543.1:c.*439A>C	ENSP00000496826.1:n.*439A>C
ENST00000649752.1:c.562A>C	ENSP00000497267.1:p.Met188Leu
ENST00000650076.1:c.211+24299A>C
ENST00000650471.1:c.*279A>C	ENSP00000498027.1:n.*279A>C
ENST00000650604.1:c.262A>C	ENSP00000497105.1:p.Met88Leu
ENST00000373568.6:c.562A>C	ENSP00000362669.2:p.Met188Leu
ENST00000373573.7:c.835A>C	ENSP00000362674.3:p.Met279Leu
ENST00000373583.5:c.164+107423A>C	ENSP00000362685.1:n.164+107423A>C
ENST00000373589.8:c.562A>C	ENSP00000362691.4:p.Met188Leu
ENST00000415409.5:c.757A>C	ENSP00000396424.1:p.Met253Leu
ENST00000436675.5:c.*90A>C	ENSP00000416489.1:n.*90A>C
NM_001166418.1:c.562A>C	NP_001159890.1:p.Met188Leu
NM_018486.2:c.835A>C	NP_060956.1:p.Met279Leu
NR_051952.1:n.1035A>C
XM_011530986.1:c.835A>C	XP_011529288.1:p.Met279Leu
XM_011530987.1:c.835A>C	XP_011529289.1:p.Met279Leu
XM_011530988.1:c.835A>C	XP_011529290.1:p.Met279Leu
XR_938402.1:n.921A>C
XM_011530986.3:c.835A>C	XP_011529288.3:p.Met279Leu
XM_017029640.2:c.757A>C	XP_016885129.2:p.Met253Leu
XM_017029641.2:c.757A>C	XP_016885130.2:p.Met253Leu
XM_017029642.1:c.676A>C	XP_016885131.1:p.Met226Leu
XM_017029643.2:c.649A>C	XP_016885132.1:p.Met217Leu
XM_017029644.2:c.598A>C	XP_016885133.1:p.Met200Leu
XM_017029645.2:c.649A>C	XP_016885134.1:p.Met217Leu
XM_017029646.1:c.448A>C	XP_016885135.1:p.Met150Leu
XM_024452405.1:c.250A>C	XP_024308173.1:p.Met84Leu
XR_001755711.2:n.921A>C
XR_002958779.1:n.921A>C
XR_002958780.1:n.921A>C
XR_002958781.1:n.921A>C
XR_002958782.1:n.897A>C
XR_002958783.1:n.897A>C
XR_938402.3:n.921A>C
NM_018486.3:c.835A>C MANE Select	NP_060956.1:p.Met279Leu
NM_001166418.2:c.562A>C	NP_001159890.1:p.Met188Leu
NR_051952.2:n.775A>C