Canonical Allele Identifier: CA371064443

Gene: KAT6A

Linked Data

• dbSNP Id: rs144720569
• gnomAD v2: 8-41790868-C-G
• gnomAD v3: 8-41933350-C-G
• gnomAD v4: 8-41933350-C-G
• MyVariant Identifiers: chr8:g.41790868C>G (hg19) ; chr8:g.41933350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933350C>G , CM000670.2:g.41933350C>G	GRCh38
NC_000008.10:g.41790868C>G , CM000670.1:g.41790868C>G	GRCh37
NC_000008.9:g.41910025C>G	NCBI36
NG_042093.1:g.123677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4870G>C MANE Select	ENSP00000265713.2:p.Val1624Leu
ENST00000396930.4:c.4870G>C	ENSP00000380136.3:p.Val1624Leu
ENST00000406337.6:c.4876G>C	ENSP00000385888.2:p.Val1626Leu
ENST00000648335.1:c.4870G>C	ENSP00000497086.1:p.Val1624Leu
ENST00000649817.1:c.3551G>C
ENST00000265713.6:c.4870G>C	ENSP00000265713.2:p.Val1624Leu
ENST00000396930.3:c.4870G>C	ENSP00000380136.3:p.Val1624Leu
ENST00000406337.5:c.4870G>C	ENSP00000385888.1:p.Val1624Leu
NM_001099412.1:c.4870G>C	NP_001092882.1:p.Val1624Leu
NM_001099413.1:c.4870G>C	NP_001092883.1:p.Val1624Leu
NM_006766.3:c.4870G>C	NP_006757.2:p.Val1624Leu
NM_006766.4:c.4870G>C	NP_006757.2:p.Val1624Leu
XM_011544656.1:c.5002G>C	XP_011542958.1:p.Val1668Leu
XM_011544657.1:c.5002G>C	XP_011542959.1:p.Val1668Leu
XM_011544658.1:c.5002G>C	XP_011542960.1:p.Val1668Leu
XM_011544659.1:c.4981G>C	XP_011542961.1:p.Val1661Leu
XM_011544660.1:c.4888G>C	XP_011542962.1:p.Val1630Leu
XM_011544656.2:c.5002G>C	XP_011542958.1:p.Val1668Leu
XM_011544657.3:c.5002G>C	XP_011542959.1:p.Val1668Leu
XM_011544658.3:c.5002G>C	XP_011542960.1:p.Val1668Leu
XM_011544659.2:c.4981G>C	XP_011542961.1:p.Val1661Leu
XM_017013863.1:c.4870G>C	XP_016869352.1:p.Val1624Leu
XM_017013864.2:c.4870G>C	XP_016869353.1:p.Val1624Leu
XM_024447285.1:c.3442G>C	XP_024303053.1:p.Val1148Leu
NM_006766.5:c.4870G>C MANE Select	NP_006757.2:p.Val1624Leu