Canonical Allele Identifier: CA371063729

Gene: KAT6A

Linked Data

• dbSNP Id: rs748913433
• gnomAD v2: 8-41790674-C-A
• gnomAD v4: 8-41933156-C-A
• MyVariant Identifiers: chr8:g.41790674C>A (hg19) ; chr8:g.41933156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933156C>A , CM000670.2:g.41933156C>A	GRCh38
NC_000008.10:g.41790674C>A , CM000670.1:g.41790674C>A	GRCh37
NC_000008.9:g.41909831C>A	NCBI36
NG_042093.1:g.123871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5064G>T MANE Select	ENSP00000265713.2:p.Gln1688His
ENST00000396930.4:c.5064G>T	ENSP00000380136.3:p.Gln1688His
ENST00000406337.6:c.5070G>T	ENSP00000385888.2:p.Gln1690His
ENST00000649817.1:c.3745G>T
ENST00000265713.6:c.5064G>T	ENSP00000265713.2:p.Gln1688His
ENST00000396930.3:c.5064G>T	ENSP00000380136.3:p.Gln1688His
ENST00000406337.5:c.5064G>T	ENSP00000385888.1:p.Gln1688His
NM_001099412.1:c.5064G>T	NP_001092882.1:p.Gln1688His
NM_001099413.1:c.5064G>T	NP_001092883.1:p.Gln1688His
NM_006766.3:c.5064G>T	NP_006757.2:p.Gln1688His
NM_006766.4:c.5064G>T	NP_006757.2:p.Gln1688His
XM_011544656.1:c.5196G>T	XP_011542958.1:p.Gln1732His
XM_011544657.1:c.5196G>T	XP_011542959.1:p.Gln1732His
XM_011544658.1:c.5196G>T	XP_011542960.1:p.Gln1732His
XM_011544659.1:c.5175G>T	XP_011542961.1:p.Gln1725His
XM_011544660.1:c.5082G>T	XP_011542962.1:p.Gln1694His
XM_011544656.2:c.5196G>T	XP_011542958.1:p.Gln1732His
XM_011544657.3:c.5196G>T	XP_011542959.1:p.Gln1732His
XM_011544658.3:c.5196G>T	XP_011542960.1:p.Gln1732His
XM_011544659.2:c.5175G>T	XP_011542961.1:p.Gln1725His
XM_017013863.1:c.5064G>T	XP_016869352.1:p.Gln1688His
XM_017013864.2:c.5064G>T	XP_016869353.1:p.Gln1688His
XM_024447285.1:c.3636G>T	XP_024303053.1:p.Gln1212His
NM_006766.5:c.5064G>T MANE Select	NP_006757.2:p.Gln1688His