Canonical Allele Identifier: CA371063795

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933184-G-T
• MyVariant Identifiers: chr8:g.41790702G>T (hg19) ; chr8:g.41933184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933184G>T , CM000670.2:g.41933184G>T	GRCh38
NC_000008.10:g.41790702G>T , CM000670.1:g.41790702G>T	GRCh37
NC_000008.9:g.41909859G>T	NCBI36
NG_042093.1:g.123843C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5036C>A MANE Select	ENSP00000265713.2:p.Pro1679Gln
ENST00000396930.4:c.5036C>A	ENSP00000380136.3:p.Pro1679Gln
ENST00000406337.6:c.5042C>A	ENSP00000385888.2:p.Pro1681Gln
ENST00000649817.1:c.3717C>A
ENST00000265713.6:c.5036C>A	ENSP00000265713.2:p.Pro1679Gln
ENST00000396930.3:c.5036C>A	ENSP00000380136.3:p.Pro1679Gln
ENST00000406337.5:c.5036C>A	ENSP00000385888.1:p.Pro1679Gln
NM_001099412.1:c.5036C>A	NP_001092882.1:p.Pro1679Gln
NM_001099413.1:c.5036C>A	NP_001092883.1:p.Pro1679Gln
NM_006766.3:c.5036C>A	NP_006757.2:p.Pro1679Gln
NM_006766.4:c.5036C>A	NP_006757.2:p.Pro1679Gln
XM_011544656.1:c.5168C>A	XP_011542958.1:p.Pro1723Gln
XM_011544657.1:c.5168C>A	XP_011542959.1:p.Pro1723Gln
XM_011544658.1:c.5168C>A	XP_011542960.1:p.Pro1723Gln
XM_011544659.1:c.5147C>A	XP_011542961.1:p.Pro1716Gln
XM_011544660.1:c.5054C>A	XP_011542962.1:p.Pro1685Gln
XM_011544656.2:c.5168C>A	XP_011542958.1:p.Pro1723Gln
XM_011544657.3:c.5168C>A	XP_011542959.1:p.Pro1723Gln
XM_011544658.3:c.5168C>A	XP_011542960.1:p.Pro1723Gln
XM_011544659.2:c.5147C>A	XP_011542961.1:p.Pro1716Gln
XM_017013863.1:c.5036C>A	XP_016869352.1:p.Pro1679Gln
XM_017013864.2:c.5036C>A	XP_016869353.1:p.Pro1679Gln
XM_024447285.1:c.3608C>A	XP_024303053.1:p.Pro1203Gln
NM_006766.5:c.5036C>A MANE Select	NP_006757.2:p.Pro1679Gln