Canonical Allele Identifier: CA371064317

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1918438
• ClinVar RCV Id: RCV002601963 ; RCV003130728
• dbSNP Id: rs1821663767
• gnomAD v4: 8-41933322-T-C
• MyVariant Identifiers: chr8:g.41790840T>C (hg19) ; chr8:g.41933322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933322T>C , CM000670.2:g.41933322T>C	GRCh38
NC_000008.10:g.41790840T>C , CM000670.1:g.41790840T>C	GRCh37
NC_000008.9:g.41909997T>C	NCBI36
NG_042093.1:g.123705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4898A>G MANE Select	ENSP00000265713.2:p.Lys1633Arg
ENST00000396930.4:c.4898A>G	ENSP00000380136.3:p.Lys1633Arg
ENST00000406337.6:c.4904A>G	ENSP00000385888.2:p.Lys1635Arg
ENST00000648335.1:c.4898A>G	ENSP00000497086.1:p.Lys1633Arg
ENST00000649817.1:c.3579A>G
ENST00000265713.6:c.4898A>G	ENSP00000265713.2:p.Lys1633Arg
ENST00000396930.3:c.4898A>G	ENSP00000380136.3:p.Lys1633Arg
ENST00000406337.5:c.4898A>G	ENSP00000385888.1:p.Lys1633Arg
NM_001099412.1:c.4898A>G	NP_001092882.1:p.Lys1633Arg
NM_001099413.1:c.4898A>G	NP_001092883.1:p.Lys1633Arg
NM_006766.3:c.4898A>G	NP_006757.2:p.Lys1633Arg
NM_006766.4:c.4898A>G	NP_006757.2:p.Lys1633Arg
XM_011544656.1:c.5030A>G	XP_011542958.1:p.Lys1677Arg
XM_011544657.1:c.5030A>G	XP_011542959.1:p.Lys1677Arg
XM_011544658.1:c.5030A>G	XP_011542960.1:p.Lys1677Arg
XM_011544659.1:c.5009A>G	XP_011542961.1:p.Lys1670Arg
XM_011544660.1:c.4916A>G	XP_011542962.1:p.Lys1639Arg
XM_011544656.2:c.5030A>G	XP_011542958.1:p.Lys1677Arg
XM_011544657.3:c.5030A>G	XP_011542959.1:p.Lys1677Arg
XM_011544658.3:c.5030A>G	XP_011542960.1:p.Lys1677Arg
XM_011544659.2:c.5009A>G	XP_011542961.1:p.Lys1670Arg
XM_017013863.1:c.4898A>G	XP_016869352.1:p.Lys1633Arg
XM_017013864.2:c.4898A>G	XP_016869353.1:p.Lys1633Arg
XM_024447285.1:c.3470A>G	XP_024303053.1:p.Lys1157Arg
NM_006766.5:c.4898A>G MANE Select	NP_006757.2:p.Lys1633Arg