Canonical Allele Identifier: CA371074520

Gene: KAT6A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41955312G>A , CM000670.2:g.41955312G>A	GRCh38
NC_000008.10:g.41812830G>A , CM000670.1:g.41812830G>A	GRCh37
NC_000008.9:g.41931987G>A	NCBI36
NG_042093.1:g.101715C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006766.5:c.1582C>T MANE Select	NP_006757.2:p.Pro528Ser
ENST00000265713.8:c.1582C>T MANE Select	ENSP00000265713.2:p.Pro528Ser
NM_001099412.1:c.1582C>T	NP_001092882.1:p.Pro528Ser
NM_001099413.1:c.1582C>T	NP_001092883.1:p.Pro528Ser
NM_001305878.1:c.1582C>T	NP_001292807.1:p.Pro528Ser
NM_001305878.2:c.1582C>T	NP_001292807.1:p.Pro528Ser
NM_006766.3:c.1582C>T	NP_006757.2:p.Pro528Ser
NM_006766.4:c.1582C>T	NP_006757.2:p.Pro528Ser
ENST00000265713.6:c.1582C>T	ENSP00000265713.2:p.Pro528Ser
ENST00000396930.3:c.1582C>T	ENSP00000380136.3:p.Pro528Ser
ENST00000396930.4:c.1582C>T	ENSP00000380136.3:p.Pro528Ser
ENST00000406337.5:c.1582C>T	ENSP00000385888.1:p.Pro528Ser
ENST00000406337.6:c.1582C>T	ENSP00000385888.2:p.Pro528Ser
ENST00000418721.5:c.322C>T	ENSP00000399638.1:p.Pro108Ser
ENST00000485568.5:c.1582C>T	ENSP00000430606.1:p.Pro528Ser
ENST00000647809.1:n.2123C>T
ENST00000648335.1:c.1582C>T	ENSP00000497086.1:p.Pro528Ser
ENST00000649817.1:c.263C>T
ENST00000649827.1:c.*556C>T	ENSP00000497447.1:n.*556C>T
XM_011544656.1:c.1714C>T	XP_011542958.1:p.Pro572Ser
XM_011544656.2:c.1714C>T	XP_011542958.1:p.Pro572Ser
XM_011544657.1:c.1714C>T	XP_011542959.1:p.Pro572Ser
XM_011544657.3:c.1714C>T	XP_011542959.1:p.Pro572Ser
XM_011544658.1:c.1714C>T	XP_011542960.1:p.Pro572Ser
XM_011544658.3:c.1714C>T	XP_011542960.1:p.Pro572Ser
XM_011544659.1:c.1693C>T	XP_011542961.1:p.Pro565Ser
XM_011544659.2:c.1693C>T	XP_011542961.1:p.Pro565Ser
XM_011544660.1:c.1600C>T	XP_011542962.1:p.Pro534Ser
XM_017013863.1:c.1582C>T	XP_016869352.1:p.Pro528Ser
XM_017013864.2:c.1582C>T	XP_016869353.1:p.Pro528Ser
XM_024447285.1:c.154C>T	XP_024303053.1:p.Pro52Ser