Canonical Allele Identifier: CA4729374

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1248835
• ClinVar RCV Id: RCV001654772 ; RCV003900833
• dbSNP Id: rs552834605
• ExAC: 8:41790702 G / A
• gnomAD v2: 8-41790702-G-A
• gnomAD v3: 8-41933184-G-A
• gnomAD v4: 8-41933184-G-A
• MyVariant Identifiers: chr8:g.41790702G>A (hg19) ; chr8:g.41933184G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5036C>T MANE Select	ENSP00000265713.2:p.Pro1679Leu
ENST00000396930.4:c.5036C>T	ENSP00000380136.3:p.Pro1679Leu
ENST00000406337.6:c.5042C>T	ENSP00000385888.2:p.Pro1681Leu
ENST00000649817.1:c.3717C>T
ENST00000265713.6:c.5036C>T	ENSP00000265713.2:p.Pro1679Leu
ENST00000396930.3:c.5036C>T	ENSP00000380136.3:p.Pro1679Leu
ENST00000406337.5:c.5036C>T	ENSP00000385888.1:p.Pro1679Leu
NM_001099412.1:c.5036C>T	NP_001092882.1:p.Pro1679Leu
NM_001099413.1:c.5036C>T	NP_001092883.1:p.Pro1679Leu
NM_006766.3:c.5036C>T	NP_006757.2:p.Pro1679Leu
NM_006766.4:c.5036C>T	NP_006757.2:p.Pro1679Leu
XM_011544656.1:c.5168C>T	XP_011542958.1:p.Pro1723Leu
XM_011544657.1:c.5168C>T	XP_011542959.1:p.Pro1723Leu
XM_011544658.1:c.5168C>T	XP_011542960.1:p.Pro1723Leu
XM_011544659.1:c.5147C>T	XP_011542961.1:p.Pro1716Leu
XM_011544660.1:c.5054C>T	XP_011542962.1:p.Pro1685Leu
XM_011544656.2:c.5168C>T	XP_011542958.1:p.Pro1723Leu
XM_011544657.3:c.5168C>T	XP_011542959.1:p.Pro1723Leu
XM_011544658.3:c.5168C>T	XP_011542960.1:p.Pro1723Leu
XM_011544659.2:c.5147C>T	XP_011542961.1:p.Pro1716Leu
XM_017013863.1:c.5036C>T	XP_016869352.1:p.Pro1679Leu
XM_017013864.2:c.5036C>T	XP_016869353.1:p.Pro1679Leu
XM_024447285.1:c.3608C>T	XP_024303053.1:p.Pro1203Leu
NM_006766.5:c.5036C>T MANE Select	NP_006757.2:p.Pro1679Leu