Canonical Allele Identifier: CA16618640
Gene: KAT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 419207
dbSNP Id: rs1064793721

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41978754G>A , CM000670.2:g.41978754G>A GRCh38
NC_000008.10:g.41836272G>A , CM000670.1:g.41836272G>A GRCh37
NC_000008.9:g.41955429G>A NCBI36
NG_042093.1:g.78273C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265713.8:c.931C>T MANE Select ENSP00000265713.2:p.Arg311Ter
ENST00000396930.4:c.931C>T ENSP00000380136.3:p.Arg311Ter
ENST00000406337.6:c.931C>T ENSP00000385888.2:p.Arg311Ter
ENST00000470574.2:n.1343C>T
ENST00000647809.1:n.1472C>T
ENST00000648030.1:n.1475C>T
ENST00000648335.1:c.931C>T ENSP00000497086.1:p.Arg311Ter
ENST00000649827.1:c.931C>T ENSP00000497447.1:p.Arg311Ter
ENST00000650356.1:n.1438C>T
ENST00000265713.6:c.931C>T ENSP00000265713.2:p.Arg311Ter
ENST00000396930.3:c.931C>T ENSP00000380136.3:p.Arg311Ter
ENST00000406337.5:c.931C>T ENSP00000385888.1:p.Arg311Ter
ENST00000485568.5:c.931C>T ENSP00000430606.1:p.Arg311Ter
NM_001099412.1:c.931C>T NP_001092882.1:p.Arg311Ter
NM_001099413.1:c.931C>T NP_001092883.1:p.Arg311Ter
NM_001305878.1:c.931C>T NP_001292807.1:p.Arg311Ter
NM_006766.3:c.931C>T NP_006757.2:p.Arg311Ter
NM_006766.4:c.931C>T NP_006757.2:p.Arg311Ter
XM_011544656.1:c.931C>T XP_011542958.1:p.Arg311Ter
XM_011544657.1:c.931C>T XP_011542959.1:p.Arg311Ter
XM_011544658.1:c.931C>T XP_011542960.1:p.Arg311Ter
XM_011544659.1:c.931C>T XP_011542961.1:p.Arg311Ter
XM_011544660.1:c.931C>T XP_011542962.1:p.Arg311Ter
XM_011544656.2:c.931C>T XP_011542958.1:p.Arg311Ter
XM_011544657.3:c.931C>T XP_011542959.1:p.Arg311Ter
XM_011544658.3:c.931C>T XP_011542960.1:p.Arg311Ter
XM_011544659.2:c.931C>T XP_011542961.1:p.Arg311Ter
XM_017013863.1:c.931C>T XP_016869352.1:p.Arg311Ter
XM_017013864.2:c.931C>T XP_016869353.1:p.Arg311Ter
XM_024447285.1:c.-519C>T XP_024303053.1:n.-519C>T
NM_006766.5:c.931C>T MANE Select NP_006757.2:p.Arg311Ter
NM_001305878.2:c.931C>T NP_001292807.1:p.Arg311Ter