Canonical Allele Identifier: CA371066479

Gene: KAT6A

Linked Data

• gnomAD v3: 8-41933981-T-G
• gnomAD v4: 8-41933981-T-G
• MyVariant Identifiers: chr8:g.41791499T>G (hg19) ; chr8:g.41933981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933981T>G , CM000670.2:g.41933981T>G	GRCh38
NC_000008.10:g.41791499T>G , CM000670.1:g.41791499T>G	GRCh37
NC_000008.9:g.41910656T>G	NCBI36
NG_042093.1:g.123046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4239A>C MANE Select	ENSP00000265713.2:p.Glu1413Asp
ENST00000396930.4:c.4239A>C	ENSP00000380136.3:p.Glu1413Asp
ENST00000406337.6:c.4245A>C	ENSP00000385888.2:p.Glu1415Asp
ENST00000648335.1:c.4239A>C	ENSP00000497086.1:p.Glu1413Asp
ENST00000649817.1:c.2920A>C
ENST00000265713.6:c.4239A>C	ENSP00000265713.2:p.Glu1413Asp
ENST00000396930.3:c.4239A>C	ENSP00000380136.3:p.Glu1413Asp
ENST00000406337.5:c.4239A>C	ENSP00000385888.1:p.Glu1413Asp
NM_001099412.1:c.4239A>C	NP_001092882.1:p.Glu1413Asp
NM_001099413.1:c.4239A>C	NP_001092883.1:p.Glu1413Asp
NM_006766.3:c.4239A>C	NP_006757.2:p.Glu1413Asp
NM_006766.4:c.4239A>C	NP_006757.2:p.Glu1413Asp
XM_011544656.1:c.4371A>C	XP_011542958.1:p.Glu1457Asp
XM_011544657.1:c.4371A>C	XP_011542959.1:p.Glu1457Asp
XM_011544658.1:c.4371A>C	XP_011542960.1:p.Glu1457Asp
XM_011544659.1:c.4350A>C	XP_011542961.1:p.Glu1450Asp
XM_011544660.1:c.4257A>C	XP_011542962.1:p.Glu1419Asp
XM_011544656.2:c.4371A>C	XP_011542958.1:p.Glu1457Asp
XM_011544657.3:c.4371A>C	XP_011542959.1:p.Glu1457Asp
XM_011544658.3:c.4371A>C	XP_011542960.1:p.Glu1457Asp
XM_011544659.2:c.4350A>C	XP_011542961.1:p.Glu1450Asp
XM_017013863.1:c.4239A>C	XP_016869352.1:p.Glu1413Asp
XM_017013864.2:c.4239A>C	XP_016869353.1:p.Glu1413Asp
XM_024447285.1:c.2811A>C	XP_024303053.1:p.Glu937Asp
NM_006766.5:c.4239A>C MANE Select	NP_006757.2:p.Glu1413Asp