Canonical Allele Identifier: CA371065812

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933782-T-C
• MyVariant Identifiers: chr8:g.41791300T>C (hg19) ; chr8:g.41933782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933782T>C , CM000670.2:g.41933782T>C	GRCh38
NC_000008.10:g.41791300T>C , CM000670.1:g.41791300T>C	GRCh37
NC_000008.9:g.41910457T>C	NCBI36
NG_042093.1:g.123245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4438A>G MANE Select	ENSP00000265713.2:p.Asn1480Asp
ENST00000396930.4:c.4438A>G	ENSP00000380136.3:p.Asn1480Asp
ENST00000406337.6:c.4444A>G	ENSP00000385888.2:p.Asn1482Asp
ENST00000648335.1:c.4438A>G	ENSP00000497086.1:p.Asn1480Asp
ENST00000649817.1:c.3119A>G
ENST00000265713.6:c.4438A>G	ENSP00000265713.2:p.Asn1480Asp
ENST00000396930.3:c.4438A>G	ENSP00000380136.3:p.Asn1480Asp
ENST00000406337.5:c.4438A>G	ENSP00000385888.1:p.Asn1480Asp
NM_001099412.1:c.4438A>G	NP_001092882.1:p.Asn1480Asp
NM_001099413.1:c.4438A>G	NP_001092883.1:p.Asn1480Asp
NM_006766.3:c.4438A>G	NP_006757.2:p.Asn1480Asp
NM_006766.4:c.4438A>G	NP_006757.2:p.Asn1480Asp
XM_011544656.1:c.4570A>G	XP_011542958.1:p.Asn1524Asp
XM_011544657.1:c.4570A>G	XP_011542959.1:p.Asn1524Asp
XM_011544658.1:c.4570A>G	XP_011542960.1:p.Asn1524Asp
XM_011544659.1:c.4549A>G	XP_011542961.1:p.Asn1517Asp
XM_011544660.1:c.4456A>G	XP_011542962.1:p.Asn1486Asp
XM_011544656.2:c.4570A>G	XP_011542958.1:p.Asn1524Asp
XM_011544657.3:c.4570A>G	XP_011542959.1:p.Asn1524Asp
XM_011544658.3:c.4570A>G	XP_011542960.1:p.Asn1524Asp
XM_011544659.2:c.4549A>G	XP_011542961.1:p.Asn1517Asp
XM_017013863.1:c.4438A>G	XP_016869352.1:p.Asn1480Asp
XM_017013864.2:c.4438A>G	XP_016869353.1:p.Asn1480Asp
XM_024447285.1:c.3010A>G	XP_024303053.1:p.Asn1004Asp
NM_006766.5:c.4438A>G MANE Select	NP_006757.2:p.Asn1480Asp