Canonical Allele Identifier: CA4729425

Gene: KAT6A

Linked Data

• dbSNP Id: rs373394333
• ExAC: 8:41790940 G / C
• gnomAD v2: 8-41790940-G-C
• gnomAD v3: 8-41933422-G-C
• gnomAD v4: 8-41933422-G-C
• MyVariant Identifiers: chr8:g.41790940G>C (hg19) ; chr8:g.41933422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933422G>C , CM000670.2:g.41933422G>C	GRCh38
NC_000008.10:g.41790940G>C , CM000670.1:g.41790940G>C	GRCh37
NC_000008.9:g.41910097G>C	NCBI36
NG_042093.1:g.123605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4798C>G MANE Select	ENSP00000265713.2:p.Gln1600Glu
ENST00000396930.4:c.4798C>G	ENSP00000380136.3:p.Gln1600Glu
ENST00000406337.6:c.4804C>G	ENSP00000385888.2:p.Gln1602Glu
ENST00000648335.1:c.4798C>G	ENSP00000497086.1:p.Gln1600Glu
ENST00000649817.1:c.3479C>G
ENST00000265713.6:c.4798C>G	ENSP00000265713.2:p.Gln1600Glu
ENST00000396930.3:c.4798C>G	ENSP00000380136.3:p.Gln1600Glu
ENST00000406337.5:c.4798C>G	ENSP00000385888.1:p.Gln1600Glu
NM_001099412.1:c.4798C>G	NP_001092882.1:p.Gln1600Glu
NM_001099413.1:c.4798C>G	NP_001092883.1:p.Gln1600Glu
NM_006766.3:c.4798C>G	NP_006757.2:p.Gln1600Glu
NM_006766.4:c.4798C>G	NP_006757.2:p.Gln1600Glu
XM_011544656.1:c.4930C>G	XP_011542958.1:p.Gln1644Glu
XM_011544657.1:c.4930C>G	XP_011542959.1:p.Gln1644Glu
XM_011544658.1:c.4930C>G	XP_011542960.1:p.Gln1644Glu
XM_011544659.1:c.4909C>G	XP_011542961.1:p.Gln1637Glu
XM_011544660.1:c.4816C>G	XP_011542962.1:p.Gln1606Glu
XM_011544656.2:c.4930C>G	XP_011542958.1:p.Gln1644Glu
XM_011544657.3:c.4930C>G	XP_011542959.1:p.Gln1644Glu
XM_011544658.3:c.4930C>G	XP_011542960.1:p.Gln1644Glu
XM_011544659.2:c.4909C>G	XP_011542961.1:p.Gln1637Glu
XM_017013863.1:c.4798C>G	XP_016869352.1:p.Gln1600Glu
XM_017013864.2:c.4798C>G	XP_016869353.1:p.Gln1600Glu
XM_024447285.1:c.3370C>G	XP_024303053.1:p.Gln1124Glu
NM_006766.5:c.4798C>G MANE Select	NP_006757.2:p.Gln1600Glu