Canonical Allele Identifier: CA371064053
Gene: KAT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 1028558
ClinVar RCV Id: RCV001329626
dbSNP Id: rs1264564304
gnomAD v4: 8-41933260-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41933260G>T , CM000670.2:g.41933260G>T GRCh38
NC_000008.10:g.41790778G>T , CM000670.1:g.41790778G>T GRCh37
NC_000008.9:g.41909935G>T NCBI36
NG_042093.1:g.123767C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265713.8:c.4960C>A MANE Select ENSP00000265713.2:p.Pro1654Thr
ENST00000396930.4:c.4960C>A ENSP00000380136.3:p.Pro1654Thr
ENST00000406337.6:c.4966C>A ENSP00000385888.2:p.Pro1656Thr
ENST00000648335.1:c.4960C>A ENSP00000497086.1:p.Pro1654Thr
ENST00000649817.1:c.3641C>A
ENST00000265713.6:c.4960C>A ENSP00000265713.2:p.Pro1654Thr
ENST00000396930.3:c.4960C>A ENSP00000380136.3:p.Pro1654Thr
ENST00000406337.5:c.4960C>A ENSP00000385888.1:p.Pro1654Thr
NM_001099412.1:c.4960C>A NP_001092882.1:p.Pro1654Thr
NM_001099413.1:c.4960C>A NP_001092883.1:p.Pro1654Thr
NM_006766.3:c.4960C>A NP_006757.2:p.Pro1654Thr
NM_006766.4:c.4960C>A NP_006757.2:p.Pro1654Thr
XM_011544656.1:c.5092C>A XP_011542958.1:p.Pro1698Thr
XM_011544657.1:c.5092C>A XP_011542959.1:p.Pro1698Thr
XM_011544658.1:c.5092C>A XP_011542960.1:p.Pro1698Thr
XM_011544659.1:c.5071C>A XP_011542961.1:p.Pro1691Thr
XM_011544660.1:c.4978C>A XP_011542962.1:p.Pro1660Thr
XM_011544656.2:c.5092C>A XP_011542958.1:p.Pro1698Thr
XM_011544657.3:c.5092C>A XP_011542959.1:p.Pro1698Thr
XM_011544658.3:c.5092C>A XP_011542960.1:p.Pro1698Thr
XM_011544659.2:c.5071C>A XP_011542961.1:p.Pro1691Thr
XM_017013863.1:c.4960C>A XP_016869352.1:p.Pro1654Thr
XM_017013864.2:c.4960C>A XP_016869353.1:p.Pro1654Thr
XM_024447285.1:c.3532C>A XP_024303053.1:p.Pro1178Thr
NM_006766.5:c.4960C>A MANE Select NP_006757.2:p.Pro1654Thr