Canonical Allele Identifier: CA16605691
Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 391816
ClinVar RCV Id: RCV000430156
dbSNP Id: rs1057524241

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.75021286G>T , CM000672.2:g.75021286G>T GRCh38
NC_000010.10:g.76781044G>T , CM000672.1:g.76781044G>T GRCh37
NC_000010.9:g.76451050G>T NCBI36
NG_032048.1:g.199874G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287239.10:c.3021+1G>T MANE Select ENSP00000287239.4:n.3021+1G>T
ENST00000372711.2:c.2472+1G>T ENSP00000361796.1:n.2472+1G>T
ENST00000372714.6:c.2145+1G>T ENSP00000361799.1:n.2145+1G>T
ENST00000372724.6:c.2472+1G>T ENSP00000361809.2:n.2472+1G>T
ENST00000372725.6:c.2145+1G>T ENSP00000361810.1:n.2145+1G>T
ENST00000647637.1:c.2145+1G>T ENSP00000497620.1:n.2145+1G>T
ENST00000647666.1:c.1983+1G>T ENSP00000497307.1:n.1983+1G>T
ENST00000647891.1:n.4176+1G>T
ENST00000648048.1:c.3021+1G>T ENSP00000497325.1:n.3021+1G>T
ENST00000648159.1:c.2145+1G>T ENSP00000497197.1:n.2145+1G>T
ENST00000648369.1:c.*179+1G>T ENSP00000496795.1:n.*179+1G>T
ENST00000648370.1:c.2472+1G>T ENSP00000497804.1:n.2472+1G>T
ENST00000648483.1:c.1332+1G>T ENSP00000498153.1:n.1332+1G>T
ENST00000648725.1:c.3021+1G>T ENSP00000497841.1:n.3021+1G>T
ENST00000648793.1:n.3499+1G>T
ENST00000648892.1:c.2145+1G>T ENSP00000497048.1:n.2145+1G>T
ENST00000648899.1:c.2145+1G>T ENSP00000497198.1:n.2145+1G>T
ENST00000649006.1:c.2145+1G>T ENSP00000498139.1:n.2145+1G>T
ENST00000649305.1:n.1336+1G>T
ENST00000649375.1:c.2472+1G>T ENSP00000498141.1:n.2472+1G>T
ENST00000649463.1:c.3021+1G>T ENSP00000497166.1:n.3021+1G>T
ENST00000649657.1:c.1956+1G>T ENSP00000497491.1:n.1956+1G>T
ENST00000650048.1:c.1794+1G>T ENSP00000497813.1:n.1794+1G>T
ENST00000650232.1:c.1956+1G>T ENSP00000497570.1:n.1956+1G>T
ENST00000650380.1:n.4485+1G>T
ENST00000650610.1:n.1472G>T
ENST00000287239.8:c.3021+1G>T ENSP00000287239.4:n.3021+1G>T
ENST00000372711.1:c.2472+1G>T ENSP00000361796.1:n.2472+1G>T
ENST00000372714.5:c.2145+1G>T ENSP00000361799.1:n.2145+1G>T
ENST00000372724.5:c.2145+1G>T ENSP00000361809.1:n.2145+1G>T
ENST00000372725.5:c.2145+1G>T ENSP00000361810.1:n.2145+1G>T
ENST00000490365.1:n.4974+1G>T
NM_001256468.1:c.2472+1G>T NP_001243397.1:n.2472+1G>T
NM_001256469.1:c.2145+1G>T NP_001243398.1:n.2145+1G>T
NM_012330.3:c.3021+1G>T NP_036462.2:n.3021+1G>T
XM_005269664.2:c.3021+1G>T XP_005269721.1:n.3021+1G>T
XM_017016000.2:c.3021+1G>T XP_016871489.1:n.3021+1G>T
XM_017016002.1:c.3021+1G>T XP_016871491.1:n.3021+1G>T
XM_017016003.1:c.3021+1G>T XP_016871492.1:n.3021+1G>T
XM_017016004.2:c.2859+1G>T XP_016871493.1:n.2859+1G>T
XM_017016005.2:c.2472+1G>T XP_016871494.1:n.2472+1G>T
XM_017016006.2:c.2145+1G>T XP_016871495.1:n.2145+1G>T
XM_017016008.2:c.2145+1G>T XP_016871497.1:n.2145+1G>T
XM_017016009.1:c.1983+1G>T XP_016871498.1:n.1983+1G>T
NM_012330.4:c.3021+1G>T MANE Select NP_036462.2:n.3021+1G>T
NM_001370132.1:c.1983+1G>T NP_001357061.1:n.1983+1G>T
NM_001370133.1:c.1332+1G>T NP_001357062.1:n.1332+1G>T
NM_001370134.1:c.936+1G>T NP_001357063.1:n.936+1G>T
NM_001370135.1:c.678+1G>T NP_001357064.1:n.678+1G>T
NM_001370136.1:c.3021+1G>T NP_001357065.1:n.3021+1G>T
NM_001370137.1:c.3021+1G>T NP_001357066.1:n.3021+1G>T
NM_001370138.1:c.2472+1G>T NP_001357067.1:n.2472+1G>T
NM_001370139.1:c.2145+1G>T NP_001357068.1:n.2145+1G>T
NM_001370140.1:c.2145+1G>T NP_001357069.1:n.2145+1G>T
NM_001370141.1:c.2145+1G>T NP_001357070.1:n.2145+1G>T
NM_001370142.1:c.2145+1G>T NP_001357071.1:n.2145+1G>T
NM_001370143.1:c.1956+1G>T NP_001357072.1:n.1956+1G>T
NM_001370144.1:c.1956+1G>T NP_001357073.1:n.1956+1G>T
NM_001256468.2:c.2472+1G>T NP_001243397.1:n.2472+1G>T
NM_001256469.2:c.2145+1G>T NP_001243398.1:n.2145+1G>T