Canonical Allele Identifier: CA1779195786
Gene: KAT6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933160G= , CM000670.2:g.41933160G= GRCh38
NC_000008.10:g.41790678G= , CM000670.1:g.41790678G= GRCh37
NC_000008.9:g.41909835G= NCBI36
NG_042093.1:g.123867C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5060C= MANE Select ENSP00000265713.2:p.Pro1687=
ENST00000396930.4:c.5060C= ENSP00000380136.3:p.Pro1687=
ENST00000406337.6:c.5066C= ENSP00000385888.2:p.Pro1689=
ENST00000649817.1:c.3741C=
ENST00000265713.6:c.5060C= ENSP00000265713.2:p.Pro1687=
ENST00000396930.3:c.5060C= ENSP00000380136.3:p.Pro1687=
ENST00000406337.5:c.5060C= ENSP00000385888.1:p.Pro1687=
NM_001099412.1:c.5060C= NP_001092882.1:p.Pro1687=
NM_001099413.1:c.5060C= NP_001092883.1:p.Pro1687=
NM_006766.3:c.5060C= NP_006757.2:p.Pro1687=
NM_006766.4:c.5060C= NP_006757.2:p.Pro1687=
XM_011544656.1:c.5192C= XP_011542958.1:p.Pro1731=
XM_011544657.1:c.5192C= XP_011542959.1:p.Pro1731=
XM_011544658.1:c.5192C= XP_011542960.1:p.Pro1731=
XM_011544659.1:c.5171C= XP_011542961.1:p.Pro1724=
XM_011544660.1:c.5078C= XP_011542962.1:p.Pro1693=
XM_011544656.2:c.5192C= XP_011542958.1:p.Pro1731=
XM_011544657.3:c.5192C= XP_011542959.1:p.Pro1731=
XM_011544658.3:c.5192C= XP_011542960.1:p.Pro1731=
XM_011544659.2:c.5171C= XP_011542961.1:p.Pro1724=
XM_017013863.1:c.5060C= XP_016869352.1:p.Pro1687=
XM_017013864.2:c.5060C= XP_016869353.1:p.Pro1687=
XM_024447285.1:c.3632C= XP_024303053.1:p.Pro1211=
NM_006766.5:c.5060C= MANE Select NP_006757.2:p.Pro1687=