Canonical Allele Identifier: CA377282096

Gene: KAT6B

Linked Data

• gnomAD v4: 10-75021193-G-T
• MyVariant Identifiers: chr10:g.76780951G>T (hg19) ; chr10:g.75021193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75021193G>T , CM000672.2:g.75021193G>T	GRCh38
NC_000010.10:g.76780951G>T , CM000672.1:g.76780951G>T	GRCh37
NC_000010.9:g.76450957G>T	NCBI36
NG_032048.1:g.199781G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287239.10:c.2929G>T MANE Select	ENSP00000287239.4:p.Ala977Ser
ENST00000372711.2:c.2380G>T	ENSP00000361796.1:p.Ala794Ser
ENST00000372714.6:c.2053G>T	ENSP00000361799.1:p.Ala685Ser
ENST00000372724.6:c.2380G>T	ENSP00000361809.2:p.Ala794Ser
ENST00000372725.6:c.2053G>T	ENSP00000361810.1:p.Ala685Ser
ENST00000647637.1:c.2053G>T	ENSP00000497620.1:p.Ala685Ser
ENST00000647666.1:c.1891G>T	ENSP00000497307.1:p.Ala631Ser
ENST00000647891.1:n.4084G>T
ENST00000648048.1:c.2929G>T	ENSP00000497325.1:p.Ala977Ser
ENST00000648159.1:c.2053G>T	ENSP00000497197.1:p.Ala685Ser
ENST00000648369.1:c.*87G>T	ENSP00000496795.1:n.*87G>T
ENST00000648370.1:c.2380G>T	ENSP00000497804.1:p.Ala794Ser
ENST00000648483.1:c.1240G>T	ENSP00000498153.1:p.Ala414Ser
ENST00000648725.1:c.2929G>T	ENSP00000497841.1:p.Ala977Ser
ENST00000648793.1:n.3407G>T
ENST00000648892.1:c.2053G>T	ENSP00000497048.1:p.Ala685Ser
ENST00000648899.1:c.2053G>T	ENSP00000497198.1:p.Ala685Ser
ENST00000649006.1:c.2053G>T	ENSP00000498139.1:p.Ala685Ser
ENST00000649305.1:n.1244G>T
ENST00000649375.1:c.2380G>T	ENSP00000498141.1:p.Ala794Ser
ENST00000649463.1:c.2929G>T	ENSP00000497166.1:p.Ala977Ser
ENST00000649657.1:c.1864G>T	ENSP00000497491.1:p.Ala622Ser
ENST00000650048.1:c.1702G>T	ENSP00000497813.1:p.Ala568Ser
ENST00000650232.1:c.1864G>T	ENSP00000497570.1:p.Ala622Ser
ENST00000650380.1:n.4393G>T
ENST00000650610.1:n.1379G>T
ENST00000287239.8:c.2929G>T	ENSP00000287239.4:p.Ala977Ser
ENST00000372711.1:c.2380G>T	ENSP00000361796.1:p.Ala794Ser
ENST00000372714.5:c.2053G>T	ENSP00000361799.1:p.Ala685Ser
ENST00000372724.5:c.2053G>T	ENSP00000361809.1:p.Ala685Ser
ENST00000372725.5:c.2053G>T	ENSP00000361810.1:p.Ala685Ser
ENST00000490365.1:n.4882G>T
NM_001256468.1:c.2380G>T	NP_001243397.1:p.Ala794Ser
NM_001256469.1:c.2053G>T	NP_001243398.1:p.Ala685Ser
NM_012330.3:c.2929G>T	NP_036462.2:p.Ala977Ser
XM_005269664.2:c.2929G>T	XP_005269721.1:p.Ala977Ser
XM_017016000.2:c.2929G>T	XP_016871489.1:p.Ala977Ser
XM_017016002.1:c.2929G>T	XP_016871491.1:p.Ala977Ser
XM_017016003.1:c.2929G>T	XP_016871492.1:p.Ala977Ser
XM_017016004.2:c.2767G>T	XP_016871493.1:p.Ala923Ser
XM_017016005.2:c.2380G>T	XP_016871494.1:p.Ala794Ser
XM_017016006.2:c.2053G>T	XP_016871495.1:p.Ala685Ser
XM_017016008.2:c.2053G>T	XP_016871497.1:p.Ala685Ser
XM_017016009.1:c.1891G>T	XP_016871498.1:p.Ala631Ser
NM_012330.4:c.2929G>T MANE Select	NP_036462.2:p.Ala977Ser
NM_001370132.1:c.1891G>T	NP_001357061.1:p.Ala631Ser
NM_001370133.1:c.1240G>T	NP_001357062.1:p.Ala414Ser
NM_001370134.1:c.844G>T	NP_001357063.1:p.Ala282Ser
NM_001370135.1:c.586G>T	NP_001357064.1:p.Ala196Ser
NM_001370136.1:c.2929G>T	NP_001357065.1:p.Ala977Ser
NM_001370137.1:c.2929G>T	NP_001357066.1:p.Ala977Ser
NM_001370138.1:c.2380G>T	NP_001357067.1:p.Ala794Ser
NM_001370139.1:c.2053G>T	NP_001357068.1:p.Ala685Ser
NM_001370140.1:c.2053G>T	NP_001357069.1:p.Ala685Ser
NM_001370141.1:c.2053G>T	NP_001357070.1:p.Ala685Ser
NM_001370142.1:c.2053G>T	NP_001357071.1:p.Ala685Ser
NM_001370143.1:c.1864G>T	NP_001357072.1:p.Ala622Ser
NM_001370144.1:c.1864G>T	NP_001357073.1:p.Ala622Ser
NM_001256468.2:c.2380G>T	NP_001243397.1:p.Ala794Ser
NM_001256469.2:c.2053G>T	NP_001243398.1:p.Ala685Ser