Canonical Allele Identifier: CA371066456

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1913397
• ClinVar RCV Id: RCV002593841
• gnomAD v4: 8-41933971-G-C
• MyVariant Identifiers: chr8:g.41791489G>C (hg19) ; chr8:g.41933971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933971G>C , CM000670.2:g.41933971G>C	GRCh38
NC_000008.10:g.41791489G>C , CM000670.1:g.41791489G>C	GRCh37
NC_000008.9:g.41910646G>C	NCBI36
NG_042093.1:g.123056C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4249C>G MANE Select	ENSP00000265713.2:p.His1417Asp
ENST00000396930.4:c.4249C>G	ENSP00000380136.3:p.His1417Asp
ENST00000406337.6:c.4255C>G	ENSP00000385888.2:p.His1419Asp
ENST00000648335.1:c.4249C>G	ENSP00000497086.1:p.His1417Asp
ENST00000649817.1:c.2930C>G
ENST00000265713.6:c.4249C>G	ENSP00000265713.2:p.His1417Asp
ENST00000396930.3:c.4249C>G	ENSP00000380136.3:p.His1417Asp
ENST00000406337.5:c.4249C>G	ENSP00000385888.1:p.His1417Asp
NM_001099412.1:c.4249C>G	NP_001092882.1:p.His1417Asp
NM_001099413.1:c.4249C>G	NP_001092883.1:p.His1417Asp
NM_006766.3:c.4249C>G	NP_006757.2:p.His1417Asp
NM_006766.4:c.4249C>G	NP_006757.2:p.His1417Asp
XM_011544656.1:c.4381C>G	XP_011542958.1:p.His1461Asp
XM_011544657.1:c.4381C>G	XP_011542959.1:p.His1461Asp
XM_011544658.1:c.4381C>G	XP_011542960.1:p.His1461Asp
XM_011544659.1:c.4360C>G	XP_011542961.1:p.His1454Asp
XM_011544660.1:c.4267C>G	XP_011542962.1:p.His1423Asp
XM_011544656.2:c.4381C>G	XP_011542958.1:p.His1461Asp
XM_011544657.3:c.4381C>G	XP_011542959.1:p.His1461Asp
XM_011544658.3:c.4381C>G	XP_011542960.1:p.His1461Asp
XM_011544659.2:c.4360C>G	XP_011542961.1:p.His1454Asp
XM_017013863.1:c.4249C>G	XP_016869352.1:p.His1417Asp
XM_017013864.2:c.4249C>G	XP_016869353.1:p.His1417Asp
XM_024447285.1:c.2821C>G	XP_024303053.1:p.His941Asp
NM_006766.5:c.4249C>G MANE Select	NP_006757.2:p.His1417Asp