Canonical Allele Identifier: CA371063720

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2230504
• ClinVar RCV Id: RCV002702860
• MyVariant Identifiers: chr8:g.41790670G>A (hg19) ; chr8:g.41933152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933152G>A , CM000670.2:g.41933152G>A	GRCh38
NC_000008.10:g.41790670G>A , CM000670.1:g.41790670G>A	GRCh37
NC_000008.9:g.41909827G>A	NCBI36
NG_042093.1:g.123875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5068C>T MANE Select	ENSP00000265713.2:p.Pro1690Ser
ENST00000396930.4:c.5068C>T	ENSP00000380136.3:p.Pro1690Ser
ENST00000406337.6:c.5074C>T	ENSP00000385888.2:p.Pro1692Ser
ENST00000649817.1:c.3749C>T
ENST00000265713.6:c.5068C>T	ENSP00000265713.2:p.Pro1690Ser
ENST00000396930.3:c.5068C>T	ENSP00000380136.3:p.Pro1690Ser
ENST00000406337.5:c.5068C>T	ENSP00000385888.1:p.Pro1690Ser
NM_001099412.1:c.5068C>T	NP_001092882.1:p.Pro1690Ser
NM_001099413.1:c.5068C>T	NP_001092883.1:p.Pro1690Ser
NM_006766.3:c.5068C>T	NP_006757.2:p.Pro1690Ser
NM_006766.4:c.5068C>T	NP_006757.2:p.Pro1690Ser
XM_011544656.1:c.5200C>T	XP_011542958.1:p.Pro1734Ser
XM_011544657.1:c.5200C>T	XP_011542959.1:p.Pro1734Ser
XM_011544658.1:c.5200C>T	XP_011542960.1:p.Pro1734Ser
XM_011544659.1:c.5179C>T	XP_011542961.1:p.Pro1727Ser
XM_011544660.1:c.5086C>T	XP_011542962.1:p.Pro1696Ser
XM_011544656.2:c.5200C>T	XP_011542958.1:p.Pro1734Ser
XM_011544657.3:c.5200C>T	XP_011542959.1:p.Pro1734Ser
XM_011544658.3:c.5200C>T	XP_011542960.1:p.Pro1734Ser
XM_011544659.2:c.5179C>T	XP_011542961.1:p.Pro1727Ser
XM_017013863.1:c.5068C>T	XP_016869352.1:p.Pro1690Ser
XM_017013864.2:c.5068C>T	XP_016869353.1:p.Pro1690Ser
XM_024447285.1:c.3640C>T	XP_024303053.1:p.Pro1214Ser
NM_006766.5:c.5068C>T MANE Select	NP_006757.2:p.Pro1690Ser