Canonical Allele Identifier: CA10654761
Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 369663
dbSNP Id: rs1057516033

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.75025250G>A , CM000672.2:g.75025250G>A GRCh38
NC_000010.10:g.76785008G>A , CM000672.1:g.76785008G>A GRCh37
NC_000010.9:g.76455014G>A NCBI36
NG_032048.1:g.203838G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287239.10:c.3664+1G>A MANE Select ENSP00000287239.4:n.3664+1G>A
ENST00000372711.2:c.3115+1G>A ENSP00000361796.1:n.3115+1G>A
ENST00000372714.6:c.2788+1G>A ENSP00000361799.1:n.2788+1G>A
ENST00000372724.6:c.3115+1G>A ENSP00000361809.2:n.3115+1G>A
ENST00000372725.6:c.2788+1G>A ENSP00000361810.1:n.2788+1G>A
ENST00000648048.1:c.3664+1G>A ENSP00000497325.1:n.3664+1G>A
ENST00000648370.1:c.3115+1G>A ENSP00000497804.1:n.3115+1G>A
ENST00000648725.1:c.3664+1G>A ENSP00000497841.1:n.3664+1G>A
ENST00000648793.1:n.4143G>A
ENST00000648892.1:c.2788+1G>A ENSP00000497048.1:n.2788+1G>A
ENST00000649006.1:c.2788+1G>A ENSP00000498139.1:n.2788+1G>A
ENST00000649463.1:c.3664+1G>A ENSP00000497166.1:n.3664+1G>A
ENST00000650232.1:c.2599+1G>A ENSP00000497570.1:n.2599+1G>A
ENST00000287239.8:c.3664+1G>A ENSP00000287239.4:n.3664+1G>A
ENST00000372711.1:c.3115+1G>A ENSP00000361796.1:n.3115+1G>A
ENST00000372714.5:c.2788+1G>A ENSP00000361799.1:n.2788+1G>A
ENST00000372724.5:c.2788+1G>A ENSP00000361809.1:n.2788+1G>A
ENST00000372725.5:c.2788+1G>A ENSP00000361810.1:n.2788+1G>A
ENST00000490365.1:n.5618G>A
NM_001256468.1:c.3115+1G>A NP_001243397.1:n.3115+1G>A
NM_001256469.1:c.2788+1G>A NP_001243398.1:n.2788+1G>A
NM_012330.3:c.3664+1G>A NP_036462.2:n.3664+1G>A
XM_005269664.2:c.3664+1G>A XP_005269721.1:n.3664+1G>A
XM_017016000.2:c.3664+1G>A XP_016871489.1:n.3664+1G>A
XM_017016002.1:c.3664+1G>A XP_016871491.1:n.3664+1G>A
XM_017016003.1:c.3664+1G>A XP_016871492.1:n.3664+1G>A
XM_017016004.2:c.3502+1G>A XP_016871493.1:n.3502+1G>A
XM_017016005.2:c.3115+1G>A XP_016871494.1:n.3115+1G>A
XM_017016006.2:c.2788+1G>A XP_016871495.1:n.2788+1G>A
XM_017016008.2:c.2788+1G>A XP_016871497.1:n.2788+1G>A
XM_017016009.1:c.2626+1G>A XP_016871498.1:n.2626+1G>A
NM_012330.4:c.3664+1G>A MANE Select NP_036462.2:n.3664+1G>A
NM_001370132.1:c.2626+1G>A NP_001357061.1:n.2626+1G>A
NM_001370133.1:c.1975+1G>A NP_001357062.1:n.1975+1G>A
NM_001370134.1:c.1579+1G>A NP_001357063.1:n.1579+1G>A
NM_001370135.1:c.1321+1G>A NP_001357064.1:n.1321+1G>A
NM_001370136.1:c.3664+1G>A NP_001357065.1:n.3664+1G>A
NM_001370137.1:c.3664+1G>A NP_001357066.1:n.3664+1G>A
NM_001370138.1:c.3115+1G>A NP_001357067.1:n.3115+1G>A
NM_001370139.1:c.2788+1G>A NP_001357068.1:n.2788+1G>A
NM_001370140.1:c.2788+1G>A NP_001357069.1:n.2788+1G>A
NM_001370141.1:c.2788+1G>A NP_001357070.1:n.2788+1G>A
NM_001370142.1:c.2788+1G>A NP_001357071.1:n.2788+1G>A
NM_001370143.1:c.2599+1G>A NP_001357072.1:n.2599+1G>A
NM_001370144.1:c.2599+1G>A NP_001357073.1:n.2599+1G>A
NM_001256468.2:c.3115+1G>A NP_001243397.1:n.3115+1G>A
NM_001256469.2:c.2788+1G>A NP_001243398.1:n.2788+1G>A