Canonical Allele Identifier: CA413643040
Community Standard Title: NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu)
Gene: HDAC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72464638A>T , CM000685.2:g.72464638A>T GRCh38
NC_000023.10:g.71684488A>T , CM000685.1:g.71684488A>T GRCh37
NC_000023.9:g.71601213A>T NCBI36
NG_015851.1:g.113466T>A

Transcript Alleles

HGVS Amino-acid Change
NM_018486.3:c.831T>A MANE Select NP_060956.1:p.Phe277Leu
ENST00000373573.9:c.831T>A MANE Select ENSP00000362674.3:p.Phe277Leu
NM_001166418.1:c.558T>A NP_001159890.1:p.Phe186Leu
NM_001166418.2:c.558T>A NP_001159890.1:p.Phe186Leu
NM_018486.2:c.831T>A NP_060956.1:p.Phe277Leu
NR_051952.1:n.1031T>A
NR_051952.2:n.771T>A
ENST00000373568.6:c.558T>A ENSP00000362669.2:p.Phe186Leu
ENST00000373568.7:c.831T>A ENSP00000362669.3:p.Phe277Leu
ENST00000373573.7:c.831T>A ENSP00000362674.3:p.Phe277Leu
ENST00000373583.5:c.164+107419T>A ENSP00000362685.1:n.164+107419T>A
ENST00000373583.6:c.753T>A ENSP00000362685.2:p.Phe251Leu
ENST00000373589.8:c.558T>A ENSP00000362691.4:p.Phe186Leu
ENST00000373589.9:c.558T>A ENSP00000362691.4:p.Phe186Leu
ENST00000415409.5:c.753T>A ENSP00000396424.1:p.Phe251Leu
ENST00000415409.6:c.831T>A ENSP00000396424.2:p.Phe277Leu
ENST00000436675.5:c.*86T>A ENSP00000416489.1:n.*86T>A
ENST00000436675.6:c.*86T>A ENSP00000416489.1:n.*86T>A
ENST00000478743.2:n.917T>A
ENST00000647594.1:c.831T>A ENSP00000496814.1:p.Phe277Leu
ENST00000647606.1:c.606T>A
ENST00000647613.1:c.*584T>A ENSP00000497911.1:n.*584T>A
ENST00000647641.1:n.918T>A
ENST00000647654.1:c.558T>A ENSP00000497568.1:p.Phe186Leu
ENST00000647718.1:n.886T>A
ENST00000647859.1:c.831T>A ENSP00000497530.1:p.Phe277Leu
ENST00000647886.1:c.831T>A ENSP00000497188.1:p.Phe277Leu
ENST00000647980.1:c.825T>A ENSP00000498002.1:p.Phe275Leu
ENST00000648139.1:c.531T>A ENSP00000496818.1:p.Phe177Leu
ENST00000648276.1:c.75T>A ENSP00000497619.1:p.Phe25Leu
ENST00000648285.1:n.614T>A
ENST00000648298.1:c.831T>A ENSP00000496866.1:p.Phe277Leu
ENST00000648452.1:c.831T>A ENSP00000497268.1:p.Phe277Leu
ENST00000648459.1:c.228T>A ENSP00000498072.1:p.Phe76Leu
ENST00000648504.1:c.768T>A ENSP00000497668.1:p.Phe256Leu
ENST00000648711.1:c.456T>A ENSP00000498040.1:p.Phe152Leu
ENST00000648731.1:c.937T>A
ENST00000648834.1:c.831T>A ENSP00000497764.1:p.Phe277Leu
ENST00000648850.1:c.466T>A
ENST00000648855.1:n.755T>A
ENST00000648870.1:c.831T>A ENSP00000497599.1:p.Phe277Leu
ENST00000648922.1:c.831T>A ENSP00000497072.1:p.Phe277Leu
ENST00000648939.1:c.831T>A ENSP00000497442.1:p.Phe277Leu
ENST00000649097.1:c.831T>A ENSP00000497551.1:p.Phe277Leu
ENST00000649116.1:c.*388T>A ENSP00000497925.1:n.*388T>A
ENST00000649181.1:c.*193T>A ENSP00000498150.1:n.*193T>A
ENST00000649242.1:c.*435T>A ENSP00000497943.1:n.*435T>A
ENST00000649274.1:c.769T>A ENSP00000497032.1:n.769T>A
ENST00000649518.1:c.*435T>A ENSP00000498169.1:n.*435T>A
ENST00000649543.1:c.*435T>A ENSP00000496826.1:n.*435T>A
ENST00000649752.1:c.558T>A ENSP00000497267.1:p.Phe186Leu
ENST00000650076.1:c.211+24295T>A
ENST00000650471.1:c.*275T>A ENSP00000498027.1:n.*275T>A
ENST00000650604.1:c.258T>A ENSP00000497105.1:p.Phe86Leu
XM_011530986.1:c.831T>A XP_011529288.1:p.Phe277Leu
XM_011530986.3:c.831T>A XP_011529288.3:p.Phe277Leu
XM_011530987.1:c.831T>A XP_011529289.1:p.Phe277Leu
XM_011530988.1:c.831T>A XP_011529290.1:p.Phe277Leu
XM_017029640.2:c.753T>A XP_016885129.2:p.Phe251Leu
XM_017029641.2:c.753T>A XP_016885130.2:p.Phe251Leu
XM_017029642.1:c.672T>A XP_016885131.1:p.Phe224Leu
XM_017029643.2:c.645T>A XP_016885132.1:p.Phe215Leu
XM_017029644.2:c.594T>A XP_016885133.1:p.Phe198Leu
XM_017029645.2:c.645T>A XP_016885134.1:p.Phe215Leu
XM_017029646.1:c.444T>A XP_016885135.1:p.Phe148Leu
XM_024452405.1:c.246T>A XP_024308173.1:p.Phe82Leu
XR_001755711.2:n.917T>A
XR_002958779.1:n.917T>A
XR_002958780.1:n.917T>A
XR_002958781.1:n.917T>A
XR_002958782.1:n.893T>A
XR_002958783.1:n.893T>A
XR_938402.1:n.917T>A
XR_938402.3:n.917T>A