Canonical Allele Identifier: CA004190

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 180229
• ClinVar RCV Id: RCV000167546 ; RCV000170450 ; RCV000623870 ; RCV001091600
• dbSNP Id: rs786200960
• MyVariant Identifiers: chr8:g.41792353G>A (hg19) ; chr8:g.41934835G>A (hg38)
• PubMed: PMID:15040442 ; PMID:16651658 ; PMID:17374998 ; PMID:19001415 ; PMID:19254709 ; PMID:19410540 ; PMID:19854944 ; PMID:19922872 ; PMID:21724834 ; PMID:22921202 ; PMID:23063713 ; PMID:23431171 ; PMID:24307508 ; PMID:24684905 ; PMID:25348405 ; PMID:25728775 ; PMID:25728777 ; PMID:27133397 ; PMID:27615324

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41934835G>A , CM000670.2:g.41934835G>A	GRCh38
NC_000008.10:g.41792353G>A , CM000670.1:g.41792353G>A	GRCh37
NC_000008.9:g.41911510G>A	NCBI36
NG_042093.1:g.122192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.3385C>T MANE Select	ENSP00000265713.2:p.Arg1129Ter
ENST00000396930.4:c.3385C>T	ENSP00000380136.3:p.Arg1129Ter
ENST00000406337.6:c.3391C>T	ENSP00000385888.2:p.Arg1131Ter
ENST00000648335.1:c.3385C>T	ENSP00000497086.1:p.Arg1129Ter
ENST00000649817.1:c.2066C>T
ENST00000649827.1:c.*2359C>T	ENSP00000497447.1:n.*2359C>T
ENST00000650495.1:n.6753C>T
ENST00000265713.6:c.3385C>T	ENSP00000265713.2:p.Arg1129Ter
ENST00000396930.3:c.3385C>T	ENSP00000380136.3:p.Arg1129Ter
ENST00000406337.5:c.3385C>T	ENSP00000385888.1:p.Arg1129Ter
ENST00000418721.5:c.2125C>T	ENSP00000399638.1:p.Arg709Ter
NM_001099412.1:c.3385C>T	NP_001092882.1:p.Arg1129Ter
NM_001099413.1:c.3385C>T	NP_001092883.1:p.Arg1129Ter
NM_006766.3:c.3385C>T	NP_006757.2:p.Arg1129Ter
NM_006766.4:c.3385C>T	NP_006757.2:p.Arg1129Ter
XM_011544656.1:c.3517C>T	XP_011542958.1:p.Arg1173Ter
XM_011544657.1:c.3517C>T	XP_011542959.1:p.Arg1173Ter
XM_011544658.1:c.3517C>T	XP_011542960.1:p.Arg1173Ter
XM_011544659.1:c.3496C>T	XP_011542961.1:p.Arg1166Ter
XM_011544660.1:c.3403C>T	XP_011542962.1:p.Arg1135Ter
XM_011544656.2:c.3517C>T	XP_011542958.1:p.Arg1173Ter
XM_011544657.3:c.3517C>T	XP_011542959.1:p.Arg1173Ter
XM_011544658.3:c.3517C>T	XP_011542960.1:p.Arg1173Ter
XM_011544659.2:c.3496C>T	XP_011542961.1:p.Arg1166Ter
XM_017013863.1:c.3385C>T	XP_016869352.1:p.Arg1129Ter
XM_017013864.2:c.3385C>T	XP_016869353.1:p.Arg1129Ter
XM_024447285.1:c.1957C>T	XP_024303053.1:p.Arg653Ter
NM_006766.5:c.3385C>T MANE Select	NP_006757.2:p.Arg1129Ter