Canonical Allele Identifier: CA5564688

Gene: KAT6B

Linked Data

• ClinVar Variation Id: 2046613
• ClinVar RCV Id: RCV002926644
• dbSNP Id: rs779222706
• ExAC: 10:76780947 C / T
• gnomAD v2: 10-76780947-C-T
• gnomAD v3: 10-75021189-C-T
• gnomAD v4: 10-75021189-C-T
• MyVariant Identifiers: chr10:g.76780947C>T (hg19) ; chr10:g.75021189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.75021189C>T , CM000672.2:g.75021189C>T	GRCh38
NC_000010.10:g.76780947C>T , CM000672.1:g.76780947C>T	GRCh37
NC_000010.9:g.76450953C>T	NCBI36
NG_032048.1:g.199777C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287239.10:c.2925C>T MANE Select	ENSP00000287239.4:p.Ser975=
ENST00000372711.2:c.2376C>T	ENSP00000361796.1:p.Ser792=
ENST00000372714.6:c.2049C>T	ENSP00000361799.1:p.Ser683=
ENST00000372724.6:c.2376C>T	ENSP00000361809.2:p.Ser792=
ENST00000372725.6:c.2049C>T	ENSP00000361810.1:p.Ser683=
ENST00000647637.1:c.2049C>T	ENSP00000497620.1:p.Ser683=
ENST00000647666.1:c.1887C>T	ENSP00000497307.1:p.Ser629=
ENST00000647891.1:n.4080C>T
ENST00000648048.1:c.2925C>T	ENSP00000497325.1:p.Ser975=
ENST00000648159.1:c.2049C>T	ENSP00000497197.1:p.Ser683=
ENST00000648369.1:c.*83C>T	ENSP00000496795.1:n.*83C>T
ENST00000648370.1:c.2376C>T	ENSP00000497804.1:p.Ser792=
ENST00000648483.1:c.1236C>T	ENSP00000498153.1:p.Ser412=
ENST00000648725.1:c.2925C>T	ENSP00000497841.1:p.Ser975=
ENST00000648793.1:n.3403C>T
ENST00000648892.1:c.2049C>T	ENSP00000497048.1:p.Ser683=
ENST00000648899.1:c.2049C>T	ENSP00000497198.1:p.Ser683=
ENST00000649006.1:c.2049C>T	ENSP00000498139.1:p.Ser683=
ENST00000649305.1:n.1240C>T
ENST00000649375.1:c.2376C>T	ENSP00000498141.1:p.Ser792=
ENST00000649463.1:c.2925C>T	ENSP00000497166.1:p.Ser975=
ENST00000649657.1:c.1860C>T	ENSP00000497491.1:p.Ser620=
ENST00000650048.1:c.1698C>T	ENSP00000497813.1:p.Ser566=
ENST00000650232.1:c.1860C>T	ENSP00000497570.1:p.Ser620=
ENST00000650380.1:n.4389C>T
ENST00000650610.1:n.1375C>T
ENST00000287239.8:c.2925C>T	ENSP00000287239.4:p.Ser975=
ENST00000372711.1:c.2376C>T	ENSP00000361796.1:p.Ser792=
ENST00000372714.5:c.2049C>T	ENSP00000361799.1:p.Ser683=
ENST00000372724.5:c.2049C>T	ENSP00000361809.1:p.Ser683=
ENST00000372725.5:c.2049C>T	ENSP00000361810.1:p.Ser683=
ENST00000490365.1:n.4878C>T
NM_001256468.1:c.2376C>T	NP_001243397.1:p.Ser792=
NM_001256469.1:c.2049C>T	NP_001243398.1:p.Ser683=
NM_012330.3:c.2925C>T	NP_036462.2:p.Ser975=
XM_005269664.2:c.2925C>T	XP_005269721.1:p.Ser975=
XM_017016000.2:c.2925C>T	XP_016871489.1:p.Ser975=
XM_017016002.1:c.2925C>T	XP_016871491.1:p.Ser975=
XM_017016003.1:c.2925C>T	XP_016871492.1:p.Ser975=
XM_017016004.2:c.2763C>T	XP_016871493.1:p.Ser921=
XM_017016005.2:c.2376C>T	XP_016871494.1:p.Ser792=
XM_017016006.2:c.2049C>T	XP_016871495.1:p.Ser683=
XM_017016008.2:c.2049C>T	XP_016871497.1:p.Ser683=
XM_017016009.1:c.1887C>T	XP_016871498.1:p.Ser629=
NM_012330.4:c.2925C>T MANE Select	NP_036462.2:p.Ser975=
NM_001370132.1:c.1887C>T	NP_001357061.1:p.Ser629=
NM_001370133.1:c.1236C>T	NP_001357062.1:p.Ser412=
NM_001370134.1:c.840C>T	NP_001357063.1:p.Ser280=
NM_001370135.1:c.582C>T	NP_001357064.1:p.Ser194=
NM_001370136.1:c.2925C>T	NP_001357065.1:p.Ser975=
NM_001370137.1:c.2925C>T	NP_001357066.1:p.Ser975=
NM_001370138.1:c.2376C>T	NP_001357067.1:p.Ser792=
NM_001370139.1:c.2049C>T	NP_001357068.1:p.Ser683=
NM_001370140.1:c.2049C>T	NP_001357069.1:p.Ser683=
NM_001370141.1:c.2049C>T	NP_001357070.1:p.Ser683=
NM_001370142.1:c.2049C>T	NP_001357071.1:p.Ser683=
NM_001370143.1:c.1860C>T	NP_001357072.1:p.Ser620=
NM_001370144.1:c.1860C>T	NP_001357073.1:p.Ser620=
NM_001256468.2:c.2376C>T	NP_001243397.1:p.Ser792=
NM_001256469.2:c.2049C>T	NP_001243398.1:p.Ser683=