Canonical Allele Identifier: CA371064741

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1716407
• ClinVar RCV Id: RCV002304678
• MyVariant Identifiers: chr8:g.41790996C>G (hg19) ; chr8:g.41933478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933478C>G , CM000670.2:g.41933478C>G	GRCh38
NC_000008.10:g.41790996C>G , CM000670.1:g.41790996C>G	GRCh37
NC_000008.9:g.41910153C>G	NCBI36
NG_042093.1:g.123549G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4742G>C MANE Select	ENSP00000265713.2:p.Ser1581Thr
ENST00000396930.4:c.4742G>C	ENSP00000380136.3:p.Ser1581Thr
ENST00000406337.6:c.4748G>C	ENSP00000385888.2:p.Ser1583Thr
ENST00000648335.1:c.4742G>C	ENSP00000497086.1:p.Ser1581Thr
ENST00000649817.1:c.3423G>C
ENST00000265713.6:c.4742G>C	ENSP00000265713.2:p.Ser1581Thr
ENST00000396930.3:c.4742G>C	ENSP00000380136.3:p.Ser1581Thr
ENST00000406337.5:c.4742G>C	ENSP00000385888.1:p.Ser1581Thr
NM_001099412.1:c.4742G>C	NP_001092882.1:p.Ser1581Thr
NM_001099413.1:c.4742G>C	NP_001092883.1:p.Ser1581Thr
NM_006766.3:c.4742G>C	NP_006757.2:p.Ser1581Thr
NM_006766.4:c.4742G>C	NP_006757.2:p.Ser1581Thr
XM_011544656.1:c.4874G>C	XP_011542958.1:p.Ser1625Thr
XM_011544657.1:c.4874G>C	XP_011542959.1:p.Ser1625Thr
XM_011544658.1:c.4874G>C	XP_011542960.1:p.Ser1625Thr
XM_011544659.1:c.4853G>C	XP_011542961.1:p.Ser1618Thr
XM_011544660.1:c.4760G>C	XP_011542962.1:p.Ser1587Thr
XM_011544656.2:c.4874G>C	XP_011542958.1:p.Ser1625Thr
XM_011544657.3:c.4874G>C	XP_011542959.1:p.Ser1625Thr
XM_011544658.3:c.4874G>C	XP_011542960.1:p.Ser1625Thr
XM_011544659.2:c.4853G>C	XP_011542961.1:p.Ser1618Thr
XM_017013863.1:c.4742G>C	XP_016869352.1:p.Ser1581Thr
XM_017013864.2:c.4742G>C	XP_016869353.1:p.Ser1581Thr
XM_024447285.1:c.3314G>C	XP_024303053.1:p.Ser1105Thr
NM_006766.5:c.4742G>C MANE Select	NP_006757.2:p.Ser1581Thr