Canonical Allele Identifier: CA4729635

Gene: KAT6A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41934559C>T , CM000670.2:g.41934559C>T	GRCh38
NC_000008.10:g.41792077C>T , CM000670.1:g.41792077C>T	GRCh37
NC_000008.9:g.41911234C>T	NCBI36
NG_042093.1:g.122468G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006766.5:c.3661G>A MANE Select	NP_006757.2:p.Glu1221Lys
ENST00000265713.8:c.3661G>A MANE Select	ENSP00000265713.2:p.Glu1221Lys
NM_001099412.1:c.3661G>A	NP_001092882.1:p.Glu1221Lys
NM_001099413.1:c.3661G>A	NP_001092883.1:p.Glu1221Lys
NM_006766.3:c.3661G>A	NP_006757.2:p.Glu1221Lys
NM_006766.4:c.3661G>A	NP_006757.2:p.Glu1221Lys
ENST00000265713.6:c.3661G>A	ENSP00000265713.2:p.Glu1221Lys
ENST00000396930.3:c.3661G>A	ENSP00000380136.3:p.Glu1221Lys
ENST00000396930.4:c.3661G>A	ENSP00000380136.3:p.Glu1221Lys
ENST00000406337.5:c.3661G>A	ENSP00000385888.1:p.Glu1221Lys
ENST00000406337.6:c.3667G>A	ENSP00000385888.2:p.Glu1223Lys
ENST00000648335.1:c.3661G>A	ENSP00000497086.1:p.Glu1221Lys
ENST00000649817.1:c.2342G>A
ENST00000649827.1:c.*2635G>A	ENSP00000497447.1:n.*2635G>A
XM_011544656.1:c.3793G>A	XP_011542958.1:p.Glu1265Lys
XM_011544656.2:c.3793G>A	XP_011542958.1:p.Glu1265Lys
XM_011544657.1:c.3793G>A	XP_011542959.1:p.Glu1265Lys
XM_011544657.3:c.3793G>A	XP_011542959.1:p.Glu1265Lys
XM_011544658.1:c.3793G>A	XP_011542960.1:p.Glu1265Lys
XM_011544658.3:c.3793G>A	XP_011542960.1:p.Glu1265Lys
XM_011544659.1:c.3772G>A	XP_011542961.1:p.Glu1258Lys
XM_011544659.2:c.3772G>A	XP_011542961.1:p.Glu1258Lys
XM_011544660.1:c.3679G>A	XP_011542962.1:p.Glu1227Lys
XM_017013863.1:c.3661G>A	XP_016869352.1:p.Glu1221Lys
XM_017013864.2:c.3661G>A	XP_016869353.1:p.Glu1221Lys
XM_024447285.1:c.2233G>A	XP_024303053.1:p.Glu745Lys