Canonical Allele Identifier: CA4729432

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 588852
• ClinVar RCV Id: RCV002315347 ; RCV002534567
• dbSNP Id: rs751096264
• ExAC: 8:41790970 C / T
• gnomAD v2: 8-41790970-C-T
• gnomAD v3: 8-41933452-C-T
• gnomAD v4: 8-41933452-C-T
• MyVariant Identifiers: chr8:g.41790970C>T (hg19) ; chr8:g.41933452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933452C>T , CM000670.2:g.41933452C>T	GRCh38
NC_000008.10:g.41790970C>T , CM000670.1:g.41790970C>T	GRCh37
NC_000008.9:g.41910127C>T	NCBI36
NG_042093.1:g.123575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4768G>A MANE Select	ENSP00000265713.2:p.Gly1590Ser
ENST00000396930.4:c.4768G>A	ENSP00000380136.3:p.Gly1590Ser
ENST00000406337.6:c.4774G>A	ENSP00000385888.2:p.Gly1592Ser
ENST00000648335.1:c.4768G>A	ENSP00000497086.1:p.Gly1590Ser
ENST00000649817.1:c.3449G>A
ENST00000265713.6:c.4768G>A	ENSP00000265713.2:p.Gly1590Ser
ENST00000396930.3:c.4768G>A	ENSP00000380136.3:p.Gly1590Ser
ENST00000406337.5:c.4768G>A	ENSP00000385888.1:p.Gly1590Ser
NM_001099412.1:c.4768G>A	NP_001092882.1:p.Gly1590Ser
NM_001099413.1:c.4768G>A	NP_001092883.1:p.Gly1590Ser
NM_006766.3:c.4768G>A	NP_006757.2:p.Gly1590Ser
NM_006766.4:c.4768G>A	NP_006757.2:p.Gly1590Ser
XM_011544656.1:c.4900G>A	XP_011542958.1:p.Gly1634Ser
XM_011544657.1:c.4900G>A	XP_011542959.1:p.Gly1634Ser
XM_011544658.1:c.4900G>A	XP_011542960.1:p.Gly1634Ser
XM_011544659.1:c.4879G>A	XP_011542961.1:p.Gly1627Ser
XM_011544660.1:c.4786G>A	XP_011542962.1:p.Gly1596Ser
XM_011544656.2:c.4900G>A	XP_011542958.1:p.Gly1634Ser
XM_011544657.3:c.4900G>A	XP_011542959.1:p.Gly1634Ser
XM_011544658.3:c.4900G>A	XP_011542960.1:p.Gly1634Ser
XM_011544659.2:c.4879G>A	XP_011542961.1:p.Gly1627Ser
XM_017013863.1:c.4768G>A	XP_016869352.1:p.Gly1590Ser
XM_017013864.2:c.4768G>A	XP_016869353.1:p.Gly1590Ser
XM_024447285.1:c.3340G>A	XP_024303053.1:p.Gly1114Ser
NM_006766.5:c.4768G>A MANE Select	NP_006757.2:p.Gly1590Ser