Canonical Allele Identifier: CA175939289
Gene: KAT6A HGNC NCBI

Linked Data

dbSNP Id: rs149043274
gnomAD v2: 8-41791234-C-A
gnomAD v3: 8-41933716-C-A
gnomAD v4: 8-41933716-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933716C>A , CM000670.2:g.41933716C>A GRCh38
NC_000008.10:g.41791234C>A , CM000670.1:g.41791234C>A GRCh37
NC_000008.9:g.41910391C>A NCBI36
NG_042093.1:g.123311G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4504G>T MANE Select ENSP00000265713.2:p.Val1502Leu
ENST00000396930.4:c.4504G>T ENSP00000380136.3:p.Val1502Leu
ENST00000406337.6:c.4510G>T ENSP00000385888.2:p.Val1504Leu
ENST00000648335.1:c.4504G>T ENSP00000497086.1:p.Val1502Leu
ENST00000649817.1:c.3185G>T
ENST00000265713.6:c.4504G>T ENSP00000265713.2:p.Val1502Leu
ENST00000396930.3:c.4504G>T ENSP00000380136.3:p.Val1502Leu
ENST00000406337.5:c.4504G>T ENSP00000385888.1:p.Val1502Leu
NM_001099412.1:c.4504G>T NP_001092882.1:p.Val1502Leu
NM_001099413.1:c.4504G>T NP_001092883.1:p.Val1502Leu
NM_006766.3:c.4504G>T NP_006757.2:p.Val1502Leu
NM_006766.4:c.4504G>T NP_006757.2:p.Val1502Leu
XM_011544656.1:c.4636G>T XP_011542958.1:p.Val1546Leu
XM_011544657.1:c.4636G>T XP_011542959.1:p.Val1546Leu
XM_011544658.1:c.4636G>T XP_011542960.1:p.Val1546Leu
XM_011544659.1:c.4615G>T XP_011542961.1:p.Val1539Leu
XM_011544660.1:c.4522G>T XP_011542962.1:p.Val1508Leu
XM_011544656.2:c.4636G>T XP_011542958.1:p.Val1546Leu
XM_011544657.3:c.4636G>T XP_011542959.1:p.Val1546Leu
XM_011544658.3:c.4636G>T XP_011542960.1:p.Val1546Leu
XM_011544659.2:c.4615G>T XP_011542961.1:p.Val1539Leu
XM_017013863.1:c.4504G>T XP_016869352.1:p.Val1502Leu
XM_017013864.2:c.4504G>T XP_016869353.1:p.Val1502Leu
XM_024447285.1:c.3076G>T XP_024303053.1:p.Val1026Leu
NM_006766.5:c.4504G>T MANE Select NP_006757.2:p.Val1502Leu