Canonical Allele Identifier: CA371065851

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1013577
• ClinVar RCV Id: RCV001312171
• dbSNP Id: rs1821692071
• MyVariant Identifiers: chr8:g.41791318A>T (hg19) ; chr8:g.41933800A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4420T>A MANE Select	ENSP00000265713.2:p.Cys1474Ser
ENST00000396930.4:c.4420T>A	ENSP00000380136.3:p.Cys1474Ser
ENST00000406337.6:c.4426T>A	ENSP00000385888.2:p.Cys1476Ser
ENST00000648335.1:c.4420T>A	ENSP00000497086.1:p.Cys1474Ser
ENST00000649817.1:c.3101T>A
ENST00000265713.6:c.4420T>A	ENSP00000265713.2:p.Cys1474Ser
ENST00000396930.3:c.4420T>A	ENSP00000380136.3:p.Cys1474Ser
ENST00000406337.5:c.4420T>A	ENSP00000385888.1:p.Cys1474Ser
NM_001099412.1:c.4420T>A	NP_001092882.1:p.Cys1474Ser
NM_001099413.1:c.4420T>A	NP_001092883.1:p.Cys1474Ser
NM_006766.3:c.4420T>A	NP_006757.2:p.Cys1474Ser
NM_006766.4:c.4420T>A	NP_006757.2:p.Cys1474Ser
XM_011544656.1:c.4552T>A	XP_011542958.1:p.Cys1518Ser
XM_011544657.1:c.4552T>A	XP_011542959.1:p.Cys1518Ser
XM_011544658.1:c.4552T>A	XP_011542960.1:p.Cys1518Ser
XM_011544659.1:c.4531T>A	XP_011542961.1:p.Cys1511Ser
XM_011544660.1:c.4438T>A	XP_011542962.1:p.Cys1480Ser
XM_011544656.2:c.4552T>A	XP_011542958.1:p.Cys1518Ser
XM_011544657.3:c.4552T>A	XP_011542959.1:p.Cys1518Ser
XM_011544658.3:c.4552T>A	XP_011542960.1:p.Cys1518Ser
XM_011544659.2:c.4531T>A	XP_011542961.1:p.Cys1511Ser
XM_017013863.1:c.4420T>A	XP_016869352.1:p.Cys1474Ser
XM_017013864.2:c.4420T>A	XP_016869353.1:p.Cys1474Ser
XM_024447285.1:c.2992T>A	XP_024303053.1:p.Cys998Ser
NM_006766.5:c.4420T>A MANE Select	NP_006757.2:p.Cys1474Ser