Canonical Allele Identifier: CA4729486

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1952112
• ClinVar RCV Id: RCV002676738
• dbSNP Id: rs766027638
• ExAC: 8:41791295 G / A
• gnomAD v2: 8-41791295-G-A
• gnomAD v3: 8-41933777-G-A
• gnomAD v4: 8-41933777-G-A
• MyVariant Identifiers: chr8:g.41791295G>A (hg19) ; chr8:g.41933777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933777G>A , CM000670.2:g.41933777G>A	GRCh38
NC_000008.10:g.41791295G>A , CM000670.1:g.41791295G>A	GRCh37
NC_000008.9:g.41910452G>A	NCBI36
NG_042093.1:g.123250C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4443C>T MANE Select	ENSP00000265713.2:p.Ser1481=
ENST00000396930.4:c.4443C>T	ENSP00000380136.3:p.Ser1481=
ENST00000406337.6:c.4449C>T	ENSP00000385888.2:p.Ser1483=
ENST00000648335.1:c.4443C>T	ENSP00000497086.1:p.Ser1481=
ENST00000649817.1:c.3124C>T
ENST00000265713.6:c.4443C>T	ENSP00000265713.2:p.Ser1481=
ENST00000396930.3:c.4443C>T	ENSP00000380136.3:p.Ser1481=
ENST00000406337.5:c.4443C>T	ENSP00000385888.1:p.Ser1481=
NM_001099412.1:c.4443C>T	NP_001092882.1:p.Ser1481=
NM_001099413.1:c.4443C>T	NP_001092883.1:p.Ser1481=
NM_006766.3:c.4443C>T	NP_006757.2:p.Ser1481=
NM_006766.4:c.4443C>T	NP_006757.2:p.Ser1481=
XM_011544656.1:c.4575C>T	XP_011542958.1:p.Ser1525=
XM_011544657.1:c.4575C>T	XP_011542959.1:p.Ser1525=
XM_011544658.1:c.4575C>T	XP_011542960.1:p.Ser1525=
XM_011544659.1:c.4554C>T	XP_011542961.1:p.Ser1518=
XM_011544660.1:c.4461C>T	XP_011542962.1:p.Ser1487=
XM_011544656.2:c.4575C>T	XP_011542958.1:p.Ser1525=
XM_011544657.3:c.4575C>T	XP_011542959.1:p.Ser1525=
XM_011544658.3:c.4575C>T	XP_011542960.1:p.Ser1525=
XM_011544659.2:c.4554C>T	XP_011542961.1:p.Ser1518=
XM_017013863.1:c.4443C>T	XP_016869352.1:p.Ser1481=
XM_017013864.2:c.4443C>T	XP_016869353.1:p.Ser1481=
XM_024447285.1:c.3015C>T	XP_024303053.1:p.Ser1005=
NM_006766.5:c.4443C>T MANE Select	NP_006757.2:p.Ser1481=