Canonical Allele Identifier: CA371065852

Gene: KAT6A

Linked Data

• MyVariant Identifiers: chr8:g.41791318A>G (hg19) ; chr8:g.41933800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933800A>G , CM000670.2:g.41933800A>G	GRCh38
NC_000008.10:g.41791318A>G , CM000670.1:g.41791318A>G	GRCh37
NC_000008.9:g.41910475A>G	NCBI36
NG_042093.1:g.123227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4420T>C MANE Select	ENSP00000265713.2:p.Cys1474Arg
ENST00000396930.4:c.4420T>C	ENSP00000380136.3:p.Cys1474Arg
ENST00000406337.6:c.4426T>C	ENSP00000385888.2:p.Cys1476Arg
ENST00000648335.1:c.4420T>C	ENSP00000497086.1:p.Cys1474Arg
ENST00000649817.1:c.3101T>C
ENST00000265713.6:c.4420T>C	ENSP00000265713.2:p.Cys1474Arg
ENST00000396930.3:c.4420T>C	ENSP00000380136.3:p.Cys1474Arg
ENST00000406337.5:c.4420T>C	ENSP00000385888.1:p.Cys1474Arg
NM_001099412.1:c.4420T>C	NP_001092882.1:p.Cys1474Arg
NM_001099413.1:c.4420T>C	NP_001092883.1:p.Cys1474Arg
NM_006766.3:c.4420T>C	NP_006757.2:p.Cys1474Arg
NM_006766.4:c.4420T>C	NP_006757.2:p.Cys1474Arg
XM_011544656.1:c.4552T>C	XP_011542958.1:p.Cys1518Arg
XM_011544657.1:c.4552T>C	XP_011542959.1:p.Cys1518Arg
XM_011544658.1:c.4552T>C	XP_011542960.1:p.Cys1518Arg
XM_011544659.1:c.4531T>C	XP_011542961.1:p.Cys1511Arg
XM_011544660.1:c.4438T>C	XP_011542962.1:p.Cys1480Arg
XM_011544656.2:c.4552T>C	XP_011542958.1:p.Cys1518Arg
XM_011544657.3:c.4552T>C	XP_011542959.1:p.Cys1518Arg
XM_011544658.3:c.4552T>C	XP_011542960.1:p.Cys1518Arg
XM_011544659.2:c.4531T>C	XP_011542961.1:p.Cys1511Arg
XM_017013863.1:c.4420T>C	XP_016869352.1:p.Cys1474Arg
XM_017013864.2:c.4420T>C	XP_016869353.1:p.Cys1474Arg
XM_024447285.1:c.2992T>C	XP_024303053.1:p.Cys998Arg
NM_006766.5:c.4420T>C MANE Select	NP_006757.2:p.Cys1474Arg