Canonical Allele Identifier: CA460783629

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2969622
• ClinVar RCV Id: RCV003821756
• gnomAD v4: 8-41933201-T-A
• MyVariant Identifiers: chr8:g.41790719T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933201T>A , CM000670.2:g.41933201T>A	GRCh38
NC_000008.10:g.41790719T>A , CM000670.1:g.41790719T>A	GRCh37
NC_000008.9:g.41909876T>A	NCBI36
NG_042093.1:g.123826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5019A>T MANE Select	ENSP00000265713.2:p.Pro1673=
ENST00000396930.4:c.5019A>T	ENSP00000380136.3:p.Pro1673=
ENST00000406337.6:c.5025A>T	ENSP00000385888.2:p.Pro1675=
ENST00000648335.1:c.5019A>T	ENSP00000497086.1:p.Pro1673=
ENST00000649817.1:c.3700A>T
ENST00000265713.6:c.5019A>T	ENSP00000265713.2:p.Pro1673=
ENST00000396930.3:c.5019A>T	ENSP00000380136.3:p.Pro1673=
ENST00000406337.5:c.5019A>T	ENSP00000385888.1:p.Pro1673=
NM_001099412.1:c.5019A>T	NP_001092882.1:p.Pro1673=
NM_001099413.1:c.5019A>T	NP_001092883.1:p.Pro1673=
NM_006766.3:c.5019A>T	NP_006757.2:p.Pro1673=
NM_006766.4:c.5019A>T	NP_006757.2:p.Pro1673=
XM_011544656.1:c.5151A>T	XP_011542958.1:p.Pro1717=
XM_011544657.1:c.5151A>T	XP_011542959.1:p.Pro1717=
XM_011544658.1:c.5151A>T	XP_011542960.1:p.Pro1717=
XM_011544659.1:c.5130A>T	XP_011542961.1:p.Pro1710=
XM_011544660.1:c.5037A>T	XP_011542962.1:p.Pro1679=
XM_011544656.2:c.5151A>T	XP_011542958.1:p.Pro1717=
XM_011544657.3:c.5151A>T	XP_011542959.1:p.Pro1717=
XM_011544658.3:c.5151A>T	XP_011542960.1:p.Pro1717=
XM_011544659.2:c.5130A>T	XP_011542961.1:p.Pro1710=
XM_017013863.1:c.5019A>T	XP_016869352.1:p.Pro1673=
XM_017013864.2:c.5019A>T	XP_016869353.1:p.Pro1673=
XM_024447285.1:c.3591A>T	XP_024303053.1:p.Pro1197=
NM_006766.5:c.5019A>T MANE Select	NP_006757.2:p.Pro1673=