Canonical Allele Identifier: CA371063827

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2006748
• ClinVar RCV Id: RCV002811915
• dbSNP Id: rs1821652230
• MyVariant Identifiers: chr8:g.41790715G>C (hg19) ; chr8:g.41933197G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933197G>C , CM000670.2:g.41933197G>C	GRCh38
NC_000008.10:g.41790715G>C , CM000670.1:g.41790715G>C	GRCh37
NC_000008.9:g.41909872G>C	NCBI36
NG_042093.1:g.123830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5023C>G MANE Select	ENSP00000265713.2:p.Pro1675Ala
ENST00000396930.4:c.5023C>G	ENSP00000380136.3:p.Pro1675Ala
ENST00000406337.6:c.5029C>G	ENSP00000385888.2:p.Pro1677Ala
ENST00000648335.1:c.5023C>G	ENSP00000497086.1:p.Pro1675Ala
ENST00000649817.1:c.3704C>G
ENST00000265713.6:c.5023C>G	ENSP00000265713.2:p.Pro1675Ala
ENST00000396930.3:c.5023C>G	ENSP00000380136.3:p.Pro1675Ala
ENST00000406337.5:c.5023C>G	ENSP00000385888.1:p.Pro1675Ala
NM_001099412.1:c.5023C>G	NP_001092882.1:p.Pro1675Ala
NM_001099413.1:c.5023C>G	NP_001092883.1:p.Pro1675Ala
NM_006766.3:c.5023C>G	NP_006757.2:p.Pro1675Ala
NM_006766.4:c.5023C>G	NP_006757.2:p.Pro1675Ala
XM_011544656.1:c.5155C>G	XP_011542958.1:p.Pro1719Ala
XM_011544657.1:c.5155C>G	XP_011542959.1:p.Pro1719Ala
XM_011544658.1:c.5155C>G	XP_011542960.1:p.Pro1719Ala
XM_011544659.1:c.5134C>G	XP_011542961.1:p.Pro1712Ala
XM_011544660.1:c.5041C>G	XP_011542962.1:p.Pro1681Ala
XM_011544656.2:c.5155C>G	XP_011542958.1:p.Pro1719Ala
XM_011544657.3:c.5155C>G	XP_011542959.1:p.Pro1719Ala
XM_011544658.3:c.5155C>G	XP_011542960.1:p.Pro1719Ala
XM_011544659.2:c.5134C>G	XP_011542961.1:p.Pro1712Ala
XM_017013863.1:c.5023C>G	XP_016869352.1:p.Pro1675Ala
XM_017013864.2:c.5023C>G	XP_016869353.1:p.Pro1675Ala
XM_024447285.1:c.3595C>G	XP_024303053.1:p.Pro1199Ala
NM_006766.5:c.5023C>G MANE Select	NP_006757.2:p.Pro1675Ala