Canonical Allele Identifier: CA470176197

Gene: KAT6B

Linked Data

• MyVariant Identifiers: chr10:g.76781974T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75022216T>C , CM000672.2:g.75022216T>C	GRCh38
NC_000010.10:g.76781974T>C , CM000672.1:g.76781974T>C	GRCh37
NC_000010.9:g.76451980T>C	NCBI36
NG_032048.1:g.200804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287239.10:c.3357T>C MANE Select	ENSP00000287239.4:p.Val1119=
ENST00000372711.2:c.2808T>C	ENSP00000361796.1:p.Val936=
ENST00000372714.6:c.2481T>C	ENSP00000361799.1:p.Val827=
ENST00000372724.6:c.2808T>C	ENSP00000361809.2:p.Val936=
ENST00000372725.6:c.2481T>C	ENSP00000361810.1:p.Val827=
ENST00000648048.1:c.3357T>C	ENSP00000497325.1:p.Val1119=
ENST00000648370.1:c.2808T>C	ENSP00000497804.1:p.Val936=
ENST00000648725.1:c.3357T>C	ENSP00000497841.1:p.Val1119=
ENST00000648793.1:n.3835T>C
ENST00000648892.1:c.2481T>C	ENSP00000497048.1:p.Val827=
ENST00000649006.1:c.2481T>C	ENSP00000498139.1:p.Val827=
ENST00000649305.1:n.1672T>C
ENST00000649375.1:c.2808T>C	ENSP00000498141.1:p.Val936=
ENST00000649463.1:c.3357T>C	ENSP00000497166.1:p.Val1119=
ENST00000650232.1:c.2292T>C	ENSP00000497570.1:p.Val764=
ENST00000650610.1:n.2402T>C
ENST00000287239.8:c.3357T>C	ENSP00000287239.4:p.Val1119=
ENST00000372711.1:c.2808T>C	ENSP00000361796.1:p.Val936=
ENST00000372714.5:c.2481T>C	ENSP00000361799.1:p.Val827=
ENST00000372724.5:c.2481T>C	ENSP00000361809.1:p.Val827=
ENST00000372725.5:c.2481T>C	ENSP00000361810.1:p.Val827=
ENST00000490365.1:n.5310T>C
NM_001256468.1:c.2808T>C	NP_001243397.1:p.Val936=
NM_001256469.1:c.2481T>C	NP_001243398.1:p.Val827=
NM_012330.3:c.3357T>C	NP_036462.2:p.Val1119=
XM_005269664.2:c.3357T>C	XP_005269721.1:p.Val1119=
XM_017016000.2:c.3357T>C	XP_016871489.1:p.Val1119=
XM_017016002.1:c.3357T>C	XP_016871491.1:p.Val1119=
XM_017016003.1:c.3357T>C	XP_016871492.1:p.Val1119=
XM_017016004.2:c.3195T>C	XP_016871493.1:p.Val1065=
XM_017016005.2:c.2808T>C	XP_016871494.1:p.Val936=
XM_017016006.2:c.2481T>C	XP_016871495.1:p.Val827=
XM_017016008.2:c.2481T>C	XP_016871497.1:p.Val827=
XM_017016009.1:c.2319T>C	XP_016871498.1:p.Val773=
NM_012330.4:c.3357T>C MANE Select	NP_036462.2:p.Val1119=
NM_001370132.1:c.2319T>C	NP_001357061.1:p.Val773=
NM_001370133.1:c.1668T>C	NP_001357062.1:p.Val556=
NM_001370134.1:c.1272T>C	NP_001357063.1:p.Val424=
NM_001370135.1:c.1014T>C	NP_001357064.1:p.Val338=
NM_001370136.1:c.3357T>C	NP_001357065.1:p.Val1119=
NM_001370137.1:c.3357T>C	NP_001357066.1:p.Val1119=
NM_001370138.1:c.2808T>C	NP_001357067.1:p.Val936=
NM_001370139.1:c.2481T>C	NP_001357068.1:p.Val827=
NM_001370140.1:c.2481T>C	NP_001357069.1:p.Val827=
NM_001370141.1:c.2481T>C	NP_001357070.1:p.Val827=
NM_001370142.1:c.2481T>C	NP_001357071.1:p.Val827=
NM_001370143.1:c.2292T>C	NP_001357072.1:p.Val764=
NM_001370144.1:c.2292T>C	NP_001357073.1:p.Val764=
NM_001256468.2:c.2808T>C	NP_001243397.1:p.Val936=
NM_001256469.2:c.2481T>C	NP_001243398.1:p.Val827=