Canonical Allele Identifier: CA371063803
Gene: KAT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933187T>A , CM000670.2:g.41933187T>A GRCh38
NC_000008.10:g.41790705T>A , CM000670.1:g.41790705T>A GRCh37
NC_000008.9:g.41909862T>A NCBI36
NG_042093.1:g.123840A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.5033A>T MANE Select ENSP00000265713.2:p.Gln1678Leu
ENST00000396930.4:c.5033A>T ENSP00000380136.3:p.Gln1678Leu
ENST00000406337.6:c.5039A>T ENSP00000385888.2:p.Gln1680Leu
ENST00000649817.1:c.3714A>T
ENST00000265713.6:c.5033A>T ENSP00000265713.2:p.Gln1678Leu
ENST00000396930.3:c.5033A>T ENSP00000380136.3:p.Gln1678Leu
ENST00000406337.5:c.5033A>T ENSP00000385888.1:p.Gln1678Leu
NM_001099412.1:c.5033A>T NP_001092882.1:p.Gln1678Leu
NM_001099413.1:c.5033A>T NP_001092883.1:p.Gln1678Leu
NM_006766.3:c.5033A>T NP_006757.2:p.Gln1678Leu
NM_006766.4:c.5033A>T NP_006757.2:p.Gln1678Leu
XM_011544656.1:c.5165A>T XP_011542958.1:p.Gln1722Leu
XM_011544657.1:c.5165A>T XP_011542959.1:p.Gln1722Leu
XM_011544658.1:c.5165A>T XP_011542960.1:p.Gln1722Leu
XM_011544659.1:c.5144A>T XP_011542961.1:p.Gln1715Leu
XM_011544660.1:c.5051A>T XP_011542962.1:p.Gln1684Leu
XM_011544656.2:c.5165A>T XP_011542958.1:p.Gln1722Leu
XM_011544657.3:c.5165A>T XP_011542959.1:p.Gln1722Leu
XM_011544658.3:c.5165A>T XP_011542960.1:p.Gln1722Leu
XM_011544659.2:c.5144A>T XP_011542961.1:p.Gln1715Leu
XM_017013863.1:c.5033A>T XP_016869352.1:p.Gln1678Leu
XM_017013864.2:c.5033A>T XP_016869353.1:p.Gln1678Leu
XM_024447285.1:c.3605A>T XP_024303053.1:p.Gln1202Leu
NM_006766.5:c.5033A>T MANE Select NP_006757.2:p.Gln1678Leu