Canonical Allele Identifier: CA371076613

Gene: KAT6A

Linked Data

• MyVariant Identifiers: chr8:g.41836177T>G (hg19) ; chr8:g.41978659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41978659T>G , CM000670.2:g.41978659T>G	GRCh38
NC_000008.10:g.41836177T>G , CM000670.1:g.41836177T>G	GRCh37
NC_000008.9:g.41955334T>G	NCBI36
NG_042093.1:g.78368A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.1026A>C MANE Select	ENSP00000265713.2:p.Leu342Phe
ENST00000396930.4:c.1026A>C	ENSP00000380136.3:p.Leu342Phe
ENST00000406337.6:c.1026A>C	ENSP00000385888.2:p.Leu342Phe
ENST00000470574.2:n.1438A>C
ENST00000647809.1:n.1567A>C
ENST00000648030.1:n.1570A>C
ENST00000648335.1:c.1026A>C	ENSP00000497086.1:p.Leu342Phe
ENST00000649827.1:c.1026A>C	ENSP00000497447.1:p.Leu342Phe
ENST00000650356.1:n.1533A>C
ENST00000265713.6:c.1026A>C	ENSP00000265713.2:p.Leu342Phe
ENST00000396930.3:c.1026A>C	ENSP00000380136.3:p.Leu342Phe
ENST00000406337.5:c.1026A>C	ENSP00000385888.1:p.Leu342Phe
ENST00000485568.5:c.1026A>C	ENSP00000430606.1:p.Leu342Phe
NM_001099412.1:c.1026A>C	NP_001092882.1:p.Leu342Phe
NM_001099413.1:c.1026A>C	NP_001092883.1:p.Leu342Phe
NM_001305878.1:c.1026A>C	NP_001292807.1:p.Leu342Phe
NM_006766.3:c.1026A>C	NP_006757.2:p.Leu342Phe
NM_006766.4:c.1026A>C	NP_006757.2:p.Leu342Phe
XM_011544656.1:c.1026A>C	XP_011542958.1:p.Leu342Phe
XM_011544657.1:c.1026A>C	XP_011542959.1:p.Leu342Phe
XM_011544658.1:c.1026A>C	XP_011542960.1:p.Leu342Phe
XM_011544659.1:c.1022+4A>C	XP_011542961.1:n.1022+4A>C
XM_011544660.1:c.1026A>C	XP_011542962.1:p.Leu342Phe
XM_011544656.2:c.1026A>C	XP_011542958.1:p.Leu342Phe
XM_011544657.3:c.1026A>C	XP_011542959.1:p.Leu342Phe
XM_011544658.3:c.1026A>C	XP_011542960.1:p.Leu342Phe
XM_011544659.2:c.1022+4A>C	XP_011542961.1:n.1022+4A>C
XM_017013863.1:c.1026A>C	XP_016869352.1:p.Leu342Phe
XM_017013864.2:c.1026A>C	XP_016869353.1:p.Leu342Phe
XM_024447285.1:c.-424A>C	XP_024303053.1:n.-424A>C
NM_006766.5:c.1026A>C MANE Select	NP_006757.2:p.Leu342Phe
NM_001305878.2:c.1026A>C	NP_001292807.1:p.Leu342Phe