Canonical Allele Identifier: CA5564599

Gene: KAT6B

Linked Data

• ClinVar Variation Id: 260235
• ClinVar RCV Id: RCV000242268 ; RCV000509279 ; RCV002058235
• dbSNP Id: rs372149429
• ExAC: 10:76744912 G / A
• gnomAD v2: 10-76744912-G-A
• gnomAD v3: 10-74985154-G-A
• gnomAD v4: 10-74985154-G-A
• MyVariant Identifiers: chr10:g.76744912G>A (hg19) ; chr10:g.74985154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74985154G>A , CM000672.2:g.74985154G>A	GRCh38
NC_000010.10:g.76744912G>A , CM000672.1:g.76744912G>A	GRCh37
NC_000010.9:g.76414918G>A	NCBI36
NG_032048.1:g.163742G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287239.10:c.2448G>A MANE Select	ENSP00000287239.4:p.Thr816=
ENST00000372711.2:c.1899G>A	ENSP00000361796.1:p.Thr633=
ENST00000372714.6:c.1572G>A	ENSP00000361799.1:p.Thr524=
ENST00000372724.6:c.1899G>A	ENSP00000361809.2:p.Thr633=
ENST00000372725.6:c.1572G>A	ENSP00000361810.1:p.Thr524=
ENST00000647637.1:c.1572G>A	ENSP00000497620.1:p.Thr524=
ENST00000647642.1:c.*244+3226G>A	ENSP00000497723.1:n.*244+3226G>A
ENST00000647666.1:c.1497+3226G>A	ENSP00000497307.1:n.1497+3226G>A
ENST00000648048.1:c.2448G>A	ENSP00000497325.1:p.Thr816=
ENST00000648159.1:c.1572G>A	ENSP00000497197.1:p.Thr524=
ENST00000648369.1:c.2448G>A	ENSP00000496795.1:p.Thr816=
ENST00000648370.1:c.1899G>A	ENSP00000497804.1:p.Thr633=
ENST00000648483.1:c.847-3865G>A	ENSP00000498153.1:n.847-3865G>A
ENST00000648696.1:c.724G>A	ENSP00000497079.1:n.724G>A
ENST00000648725.1:c.2448G>A	ENSP00000497841.1:p.Thr816=
ENST00000648892.1:c.1572G>A	ENSP00000497048.1:p.Thr524=
ENST00000648899.1:c.1572G>A	ENSP00000497198.1:p.Thr524=
ENST00000649006.1:c.1572G>A	ENSP00000498139.1:p.Thr524=
ENST00000649375.1:c.1899G>A	ENSP00000498141.1:p.Thr633=
ENST00000649463.1:c.2448G>A	ENSP00000497166.1:p.Thr816=
ENST00000649657.1:c.1383G>A	ENSP00000497491.1:p.Thr461=
ENST00000650048.1:c.1308+3226G>A	ENSP00000497813.1:n.1308+3226G>A
ENST00000650232.1:c.1383G>A	ENSP00000497570.1:p.Thr461=
ENST00000650330.1:n.3919G>A
ENST00000650380.1:n.3912G>A
ENST00000287239.8:c.2448G>A	ENSP00000287239.4:p.Thr816=
ENST00000372711.1:c.1899G>A	ENSP00000361796.1:p.Thr633=
ENST00000372714.5:c.1572G>A	ENSP00000361799.1:p.Thr524=
ENST00000372724.5:c.1572G>A	ENSP00000361809.1:p.Thr524=
ENST00000372725.5:c.1572G>A	ENSP00000361810.1:p.Thr524=
ENST00000490365.1:n.4401G>A
NM_001256468.1:c.1899G>A	NP_001243397.1:p.Thr633=
NM_001256469.1:c.1572G>A	NP_001243398.1:p.Thr524=
NM_012330.3:c.2448G>A	NP_036462.2:p.Thr816=
XM_005269664.2:c.2448G>A	XP_005269721.1:p.Thr816=
XR_946065.1:n.1940+1585C>T
XR_946066.1:n.1794+1585C>T
XM_017016000.2:c.2448G>A	XP_016871489.1:p.Thr816=
XM_017016002.1:c.2448G>A	XP_016871491.1:p.Thr816=
XM_017016003.1:c.2448G>A	XP_016871492.1:p.Thr816=
XM_017016004.2:c.2373+3226G>A	XP_016871493.1:n.2373+3226G>A
XM_017016005.2:c.1899G>A	XP_016871494.1:p.Thr633=
XM_017016006.2:c.1572G>A	XP_016871495.1:p.Thr524=
XM_017016008.2:c.1572G>A	XP_016871497.1:p.Thr524=
XM_017016009.1:c.1497+3226G>A	XP_016871498.1:n.1497+3226G>A
NM_012330.4:c.2448G>A MANE Select	NP_036462.2:p.Thr816=
NM_001370132.1:c.1497+3226G>A	NP_001357061.1:n.1497+3226G>A
NM_001370133.1:c.847-3865G>A	NP_001357062.1:n.847-3865G>A
NM_001370134.1:c.450+3226G>A	NP_001357063.1:n.450+3226G>A
NM_001370135.1:c.193-3865G>A	NP_001357064.1:n.193-3865G>A
NM_001370136.1:c.2448G>A	NP_001357065.1:p.Thr816=
NM_001370137.1:c.2448G>A	NP_001357066.1:p.Thr816=
NM_001370138.1:c.1899G>A	NP_001357067.1:p.Thr633=
NM_001370139.1:c.1572G>A	NP_001357068.1:p.Thr524=
NM_001370140.1:c.1572G>A	NP_001357069.1:p.Thr524=
NM_001370141.1:c.1572G>A	NP_001357070.1:p.Thr524=
NM_001370142.1:c.1572G>A	NP_001357071.1:p.Thr524=
NM_001370143.1:c.1383G>A	NP_001357072.1:p.Thr461=
NM_001370144.1:c.1383G>A	NP_001357073.1:p.Thr461=
NM_001256468.2:c.1899G>A	NP_001243397.1:p.Thr633=
NM_001256469.2:c.1572G>A	NP_001243398.1:p.Thr524=