Canonical Allele Identifier: CA4729455

Gene: KAT6A

Linked Data

• dbSNP Id: rs749623572
• ExAC: 8:41791181 C / G
• gnomAD v2: 8-41791181-C-G
• gnomAD v4: 8-41933663-C-G
• MyVariant Identifiers: chr8:g.41791181C>G (hg19) ; chr8:g.41933663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933663C>G , CM000670.2:g.41933663C>G	GRCh38
NC_000008.10:g.41791181C>G , CM000670.1:g.41791181C>G	GRCh37
NC_000008.9:g.41910338C>G	NCBI36
NG_042093.1:g.123364G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4557G>C MANE Select	ENSP00000265713.2:p.Leu1519=
ENST00000396930.4:c.4557G>C	ENSP00000380136.3:p.Leu1519=
ENST00000406337.6:c.4563G>C	ENSP00000385888.2:p.Leu1521=
ENST00000648335.1:c.4557G>C	ENSP00000497086.1:p.Leu1519=
ENST00000649817.1:c.3238G>C
ENST00000265713.6:c.4557G>C	ENSP00000265713.2:p.Leu1519=
ENST00000396930.3:c.4557G>C	ENSP00000380136.3:p.Leu1519=
ENST00000406337.5:c.4557G>C	ENSP00000385888.1:p.Leu1519=
NM_001099412.1:c.4557G>C	NP_001092882.1:p.Leu1519=
NM_001099413.1:c.4557G>C	NP_001092883.1:p.Leu1519=
NM_006766.3:c.4557G>C	NP_006757.2:p.Leu1519=
NM_006766.4:c.4557G>C	NP_006757.2:p.Leu1519=
XM_011544656.1:c.4689G>C	XP_011542958.1:p.Leu1563=
XM_011544657.1:c.4689G>C	XP_011542959.1:p.Leu1563=
XM_011544658.1:c.4689G>C	XP_011542960.1:p.Leu1563=
XM_011544659.1:c.4668G>C	XP_011542961.1:p.Leu1556=
XM_011544660.1:c.4575G>C	XP_011542962.1:p.Leu1525=
XM_011544656.2:c.4689G>C	XP_011542958.1:p.Leu1563=
XM_011544657.3:c.4689G>C	XP_011542959.1:p.Leu1563=
XM_011544658.3:c.4689G>C	XP_011542960.1:p.Leu1563=
XM_011544659.2:c.4668G>C	XP_011542961.1:p.Leu1556=
XM_017013863.1:c.4557G>C	XP_016869352.1:p.Leu1519=
XM_017013864.2:c.4557G>C	XP_016869353.1:p.Leu1519=
XM_024447285.1:c.3129G>C	XP_024303053.1:p.Leu1043=
NM_006766.5:c.4557G>C MANE Select	NP_006757.2:p.Leu1519=