Canonical Allele Identifier: CA470175979

Gene: KAT6B

Linked Data

• ClinVar Variation Id: 1550727
• ClinVar RCV Id: RCV002175599
• dbSNP Id: rs749648834
• MyVariant Identifiers: chr10:g.76780948A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75021190A>C , CM000672.2:g.75021190A>C	GRCh38
NC_000010.10:g.76780948A>C , CM000672.1:g.76780948A>C	GRCh37
NC_000010.9:g.76450954A>C	NCBI36
NG_032048.1:g.199778A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287239.10:c.2926A>C MANE Select	ENSP00000287239.4:p.Arg976=
ENST00000372711.2:c.2377A>C	ENSP00000361796.1:p.Arg793=
ENST00000372714.6:c.2050A>C	ENSP00000361799.1:p.Arg684=
ENST00000372724.6:c.2377A>C	ENSP00000361809.2:p.Arg793=
ENST00000372725.6:c.2050A>C	ENSP00000361810.1:p.Arg684=
ENST00000647637.1:c.2050A>C	ENSP00000497620.1:p.Arg684=
ENST00000647666.1:c.1888A>C	ENSP00000497307.1:p.Arg630=
ENST00000647891.1:n.4081A>C
ENST00000648048.1:c.2926A>C	ENSP00000497325.1:p.Arg976=
ENST00000648159.1:c.2050A>C	ENSP00000497197.1:p.Arg684=
ENST00000648369.1:c.*84A>C	ENSP00000496795.1:n.*84A>C
ENST00000648370.1:c.2377A>C	ENSP00000497804.1:p.Arg793=
ENST00000648483.1:c.1237A>C	ENSP00000498153.1:p.Arg413=
ENST00000648725.1:c.2926A>C	ENSP00000497841.1:p.Arg976=
ENST00000648793.1:n.3404A>C
ENST00000648892.1:c.2050A>C	ENSP00000497048.1:p.Arg684=
ENST00000648899.1:c.2050A>C	ENSP00000497198.1:p.Arg684=
ENST00000649006.1:c.2050A>C	ENSP00000498139.1:p.Arg684=
ENST00000649305.1:n.1241A>C
ENST00000649375.1:c.2377A>C	ENSP00000498141.1:p.Arg793=
ENST00000649463.1:c.2926A>C	ENSP00000497166.1:p.Arg976=
ENST00000649657.1:c.1861A>C	ENSP00000497491.1:p.Arg621=
ENST00000650048.1:c.1699A>C	ENSP00000497813.1:p.Arg567=
ENST00000650232.1:c.1861A>C	ENSP00000497570.1:p.Arg621=
ENST00000650380.1:n.4390A>C
ENST00000650610.1:n.1376A>C
ENST00000287239.8:c.2926A>C	ENSP00000287239.4:p.Arg976=
ENST00000372711.1:c.2377A>C	ENSP00000361796.1:p.Arg793=
ENST00000372714.5:c.2050A>C	ENSP00000361799.1:p.Arg684=
ENST00000372724.5:c.2050A>C	ENSP00000361809.1:p.Arg684=
ENST00000372725.5:c.2050A>C	ENSP00000361810.1:p.Arg684=
ENST00000490365.1:n.4879A>C
NM_001256468.1:c.2377A>C	NP_001243397.1:p.Arg793=
NM_001256469.1:c.2050A>C	NP_001243398.1:p.Arg684=
NM_012330.3:c.2926A>C	NP_036462.2:p.Arg976=
XM_005269664.2:c.2926A>C	XP_005269721.1:p.Arg976=
XM_017016000.2:c.2926A>C	XP_016871489.1:p.Arg976=
XM_017016002.1:c.2926A>C	XP_016871491.1:p.Arg976=
XM_017016003.1:c.2926A>C	XP_016871492.1:p.Arg976=
XM_017016004.2:c.2764A>C	XP_016871493.1:p.Arg922=
XM_017016005.2:c.2377A>C	XP_016871494.1:p.Arg793=
XM_017016006.2:c.2050A>C	XP_016871495.1:p.Arg684=
XM_017016008.2:c.2050A>C	XP_016871497.1:p.Arg684=
XM_017016009.1:c.1888A>C	XP_016871498.1:p.Arg630=
NM_012330.4:c.2926A>C MANE Select	NP_036462.2:p.Arg976=
NM_001370132.1:c.1888A>C	NP_001357061.1:p.Arg630=
NM_001370133.1:c.1237A>C	NP_001357062.1:p.Arg413=
NM_001370134.1:c.841A>C	NP_001357063.1:p.Arg281=
NM_001370135.1:c.583A>C	NP_001357064.1:p.Arg195=
NM_001370136.1:c.2926A>C	NP_001357065.1:p.Arg976=
NM_001370137.1:c.2926A>C	NP_001357066.1:p.Arg976=
NM_001370138.1:c.2377A>C	NP_001357067.1:p.Arg793=
NM_001370139.1:c.2050A>C	NP_001357068.1:p.Arg684=
NM_001370140.1:c.2050A>C	NP_001357069.1:p.Arg684=
NM_001370141.1:c.2050A>C	NP_001357070.1:p.Arg684=
NM_001370142.1:c.2050A>C	NP_001357071.1:p.Arg684=
NM_001370143.1:c.1861A>C	NP_001357072.1:p.Arg621=
NM_001370144.1:c.1861A>C	NP_001357073.1:p.Arg621=
NM_001256468.2:c.2377A>C	NP_001243397.1:p.Arg793=
NM_001256469.2:c.2050A>C	NP_001243398.1:p.Arg684=