Canonical Allele Identifier: CA371067009

Gene: KAT6A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41934112C>G , CM000670.2:g.41934112C>G	GRCh38
NC_000008.10:g.41791630C>G , CM000670.1:g.41791630C>G	GRCh37
NC_000008.9:g.41910787C>G	NCBI36
NG_042093.1:g.122915G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006766.5:c.4108G>C MANE Select	NP_006757.2:p.Glu1370Gln
ENST00000265713.8:c.4108G>C MANE Select	ENSP00000265713.2:p.Glu1370Gln
NM_001099412.1:c.4108G>C	NP_001092882.1:p.Glu1370Gln
NM_001099413.1:c.4108G>C	NP_001092883.1:p.Glu1370Gln
NM_006766.3:c.4108G>C	NP_006757.2:p.Glu1370Gln
NM_006766.4:c.4108G>C	NP_006757.2:p.Glu1370Gln
ENST00000265713.6:c.4108G>C	ENSP00000265713.2:p.Glu1370Gln
ENST00000396930.3:c.4108G>C	ENSP00000380136.3:p.Glu1370Gln
ENST00000396930.4:c.4108G>C	ENSP00000380136.3:p.Glu1370Gln
ENST00000406337.5:c.4108G>C	ENSP00000385888.1:p.Glu1370Gln
ENST00000406337.6:c.4114G>C	ENSP00000385888.2:p.Glu1372Gln
ENST00000648335.1:c.4108G>C	ENSP00000497086.1:p.Glu1370Gln
ENST00000649817.1:c.2789G>C
XM_011544656.1:c.4240G>C	XP_011542958.1:p.Glu1414Gln
XM_011544656.2:c.4240G>C	XP_011542958.1:p.Glu1414Gln
XM_011544657.1:c.4240G>C	XP_011542959.1:p.Glu1414Gln
XM_011544657.3:c.4240G>C	XP_011542959.1:p.Glu1414Gln
XM_011544658.1:c.4240G>C	XP_011542960.1:p.Glu1414Gln
XM_011544658.3:c.4240G>C	XP_011542960.1:p.Glu1414Gln
XM_011544659.1:c.4219G>C	XP_011542961.1:p.Glu1407Gln
XM_011544659.2:c.4219G>C	XP_011542961.1:p.Glu1407Gln
XM_011544660.1:c.4126G>C	XP_011542962.1:p.Glu1376Gln
XM_017013863.1:c.4108G>C	XP_016869352.1:p.Glu1370Gln
XM_017013864.2:c.4108G>C	XP_016869353.1:p.Glu1370Gln
XM_024447285.1:c.2680G>C	XP_024303053.1:p.Glu894Gln