Canonical Allele Identifier: CA371064021

Gene: KAT6A

Linked Data

• dbSNP Id: rs2150855602
• gnomAD v4: 8-41933253-G-T
• MyVariant Identifiers: chr8:g.41790771G>T (hg19) ; chr8:g.41933253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933253G>T , CM000670.2:g.41933253G>T	GRCh38
NC_000008.10:g.41790771G>T , CM000670.1:g.41790771G>T	GRCh37
NC_000008.9:g.41909928G>T	NCBI36
NG_042093.1:g.123774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4967C>A MANE Select	ENSP00000265713.2:p.Pro1656Gln
ENST00000396930.4:c.4967C>A	ENSP00000380136.3:p.Pro1656Gln
ENST00000406337.6:c.4973C>A	ENSP00000385888.2:p.Pro1658Gln
ENST00000648335.1:c.4967C>A	ENSP00000497086.1:p.Pro1656Gln
ENST00000649817.1:c.3648C>A
ENST00000265713.6:c.4967C>A	ENSP00000265713.2:p.Pro1656Gln
ENST00000396930.3:c.4967C>A	ENSP00000380136.3:p.Pro1656Gln
ENST00000406337.5:c.4967C>A	ENSP00000385888.1:p.Pro1656Gln
NM_001099412.1:c.4967C>A	NP_001092882.1:p.Pro1656Gln
NM_001099413.1:c.4967C>A	NP_001092883.1:p.Pro1656Gln
NM_006766.3:c.4967C>A	NP_006757.2:p.Pro1656Gln
NM_006766.4:c.4967C>A	NP_006757.2:p.Pro1656Gln
XM_011544656.1:c.5099C>A	XP_011542958.1:p.Pro1700Gln
XM_011544657.1:c.5099C>A	XP_011542959.1:p.Pro1700Gln
XM_011544658.1:c.5099C>A	XP_011542960.1:p.Pro1700Gln
XM_011544659.1:c.5078C>A	XP_011542961.1:p.Pro1693Gln
XM_011544660.1:c.4985C>A	XP_011542962.1:p.Pro1662Gln
XM_011544656.2:c.5099C>A	XP_011542958.1:p.Pro1700Gln
XM_011544657.3:c.5099C>A	XP_011542959.1:p.Pro1700Gln
XM_011544658.3:c.5099C>A	XP_011542960.1:p.Pro1700Gln
XM_011544659.2:c.5078C>A	XP_011542961.1:p.Pro1693Gln
XM_017013863.1:c.4967C>A	XP_016869352.1:p.Pro1656Gln
XM_017013864.2:c.4967C>A	XP_016869353.1:p.Pro1656Gln
XM_024447285.1:c.3539C>A	XP_024303053.1:p.Pro1180Gln
NM_006766.5:c.4967C>A MANE Select	NP_006757.2:p.Pro1656Gln