Canonical Allele Identifier: CA4729487

Gene: KAT6A

Linked Data

• dbSNP Id: rs760204038
• ExAC: 8:41791296 C / A
• gnomAD v2: 8-41791296-C-A
• MyVariant Identifiers: chr8:g.41791296C>A (hg19) ; chr8:g.41933778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933778C>A , CM000670.2:g.41933778C>A	GRCh38
NC_000008.10:g.41791296C>A , CM000670.1:g.41791296C>A	GRCh37
NC_000008.9:g.41910453C>A	NCBI36
NG_042093.1:g.123249G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4442G>T MANE Select	ENSP00000265713.2:p.Ser1481Ile
ENST00000396930.4:c.4442G>T	ENSP00000380136.3:p.Ser1481Ile
ENST00000406337.6:c.4448G>T	ENSP00000385888.2:p.Ser1483Ile
ENST00000648335.1:c.4442G>T	ENSP00000497086.1:p.Ser1481Ile
ENST00000649817.1:c.3123G>T
ENST00000265713.6:c.4442G>T	ENSP00000265713.2:p.Ser1481Ile
ENST00000396930.3:c.4442G>T	ENSP00000380136.3:p.Ser1481Ile
ENST00000406337.5:c.4442G>T	ENSP00000385888.1:p.Ser1481Ile
NM_001099412.1:c.4442G>T	NP_001092882.1:p.Ser1481Ile
NM_001099413.1:c.4442G>T	NP_001092883.1:p.Ser1481Ile
NM_006766.3:c.4442G>T	NP_006757.2:p.Ser1481Ile
NM_006766.4:c.4442G>T	NP_006757.2:p.Ser1481Ile
XM_011544656.1:c.4574G>T	XP_011542958.1:p.Ser1525Ile
XM_011544657.1:c.4574G>T	XP_011542959.1:p.Ser1525Ile
XM_011544658.1:c.4574G>T	XP_011542960.1:p.Ser1525Ile
XM_011544659.1:c.4553G>T	XP_011542961.1:p.Ser1518Ile
XM_011544660.1:c.4460G>T	XP_011542962.1:p.Ser1487Ile
XM_011544656.2:c.4574G>T	XP_011542958.1:p.Ser1525Ile
XM_011544657.3:c.4574G>T	XP_011542959.1:p.Ser1525Ile
XM_011544658.3:c.4574G>T	XP_011542960.1:p.Ser1525Ile
XM_011544659.2:c.4553G>T	XP_011542961.1:p.Ser1518Ile
XM_017013863.1:c.4442G>T	XP_016869352.1:p.Ser1481Ile
XM_017013864.2:c.4442G>T	XP_016869353.1:p.Ser1481Ile
XM_024447285.1:c.3014G>T	XP_024303053.1:p.Ser1005Ile
NM_006766.5:c.4442G>T MANE Select	NP_006757.2:p.Ser1481Ile