Canonical Allele Identifier: CA16606098
Gene: KAT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 392057
ClinVar RCV Id: RCV000429955
dbSNP Id: rs1057524340

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41941447G>C , CM000670.2:g.41941447G>C GRCh38
NC_000008.10:g.41798965G>C , CM000670.1:g.41798965G>C GRCh37
NC_000008.9:g.41918122G>C NCBI36
NG_042093.1:g.115580C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265713.8:c.2437-3C>G MANE Select ENSP00000265713.2:n.2437-3C>G
ENST00000396930.4:c.2437-3C>G ENSP00000380136.3:n.2437-3C>G
ENST00000406337.6:c.2443-3C>G ENSP00000385888.2:n.2443-3C>G
ENST00000648224.1:n.430C>G
ENST00000648335.1:c.2437-3C>G ENSP00000497086.1:n.2437-3C>G
ENST00000649817.1:c.1118-3C>G
ENST00000649827.1:c.*1411-3C>G ENSP00000497447.1:n.*1411-3C>G
ENST00000650495.1:n.3414C>G
ENST00000265713.6:c.2437-3C>G ENSP00000265713.2:n.2437-3C>G
ENST00000396930.3:c.2437-3C>G ENSP00000380136.3:n.2437-3C>G
ENST00000406337.5:c.2437-3C>G ENSP00000385888.1:n.2437-3C>G
ENST00000418721.5:c.1177-3C>G ENSP00000399638.1:n.1177-3C>G
NM_001099412.1:c.2437-3C>G NP_001092882.1:n.2437-3C>G
NM_001099413.1:c.2437-3C>G NP_001092883.1:n.2437-3C>G
NM_006766.3:c.2437-3C>G NP_006757.2:n.2437-3C>G
NM_006766.4:c.2437-3C>G NP_006757.2:n.2437-3C>G
XM_011544656.1:c.2569-3C>G XP_011542958.1:n.2569-3C>G
XM_011544657.1:c.2569-3C>G XP_011542959.1:n.2569-3C>G
XM_011544658.1:c.2569-3C>G XP_011542960.1:n.2569-3C>G
XM_011544659.1:c.2548-3C>G XP_011542961.1:n.2548-3C>G
XM_011544660.1:c.2455-3C>G XP_011542962.1:n.2455-3C>G
XM_011544656.2:c.2569-3C>G XP_011542958.1:n.2569-3C>G
XM_011544657.3:c.2569-3C>G XP_011542959.1:n.2569-3C>G
XM_011544658.3:c.2569-3C>G XP_011542960.1:n.2569-3C>G
XM_011544659.2:c.2548-3C>G XP_011542961.1:n.2548-3C>G
XM_017013863.1:c.2437-3C>G XP_016869352.1:n.2437-3C>G
XM_017013864.2:c.2437-3C>G XP_016869353.1:n.2437-3C>G
XM_024447285.1:c.1009-3C>G XP_024303053.1:n.1009-3C>G
NM_006766.5:c.2437-3C>G MANE Select NP_006757.2:n.2437-3C>G