Canonical Allele Identifier: CA1779196145

Gene: KAT6A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933969A= , CM000670.2:g.41933969A=	GRCh38
NC_000008.10:g.41791487A= , CM000670.1:g.41791487A=	GRCh37
NC_000008.9:g.41910644A=	NCBI36
NG_042093.1:g.123058T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4251T= MANE Select	ENSP00000265713.2:p.His1417=
ENST00000396930.4:c.4251T=	ENSP00000380136.3:p.His1417=
ENST00000406337.6:c.4257T=	ENSP00000385888.2:p.His1419=
ENST00000648335.1:c.4251T=	ENSP00000497086.1:p.His1417=
ENST00000649817.1:c.2932T=
ENST00000265713.6:c.4251T=	ENSP00000265713.2:p.His1417=
ENST00000396930.3:c.4251T=	ENSP00000380136.3:p.His1417=
ENST00000406337.5:c.4251T=	ENSP00000385888.1:p.His1417=
NM_001099412.1:c.4251T=	NP_001092882.1:p.His1417=
NM_001099413.1:c.4251T=	NP_001092883.1:p.His1417=
NM_006766.3:c.4251T=	NP_006757.2:p.His1417=
NM_006766.4:c.4251T=	NP_006757.2:p.His1417=
XM_011544656.1:c.4383T=	XP_011542958.1:p.His1461=
XM_011544657.1:c.4383T=	XP_011542959.1:p.His1461=
XM_011544658.1:c.4383T=	XP_011542960.1:p.His1461=
XM_011544659.1:c.4362T=	XP_011542961.1:p.His1454=
XM_011544660.1:c.4269T=	XP_011542962.1:p.His1423=
XM_011544656.2:c.4383T=	XP_011542958.1:p.His1461=
XM_011544657.3:c.4383T=	XP_011542959.1:p.His1461=
XM_011544658.3:c.4383T=	XP_011542960.1:p.His1461=
XM_011544659.2:c.4362T=	XP_011542961.1:p.His1454=
XM_017013863.1:c.4251T=	XP_016869352.1:p.His1417=
XM_017013864.2:c.4251T=	XP_016869353.1:p.His1417=
XM_024447285.1:c.2823T=	XP_024303053.1:p.His941=
NM_006766.5:c.4251T= MANE Select	NP_006757.2:p.His1417=