Canonical Allele Identifier: CA371066436

Gene: KAT6A

Linked Data

• MyVariant Identifiers: chr8:g.41791485C>A (hg19) ; chr8:g.41933967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933967C>A , CM000670.2:g.41933967C>A	GRCh38
NC_000008.10:g.41791485C>A , CM000670.1:g.41791485C>A	GRCh37
NC_000008.9:g.41910642C>A	NCBI36
NG_042093.1:g.123060G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4253G>T MANE Select	ENSP00000265713.2:p.Ser1418Ile
ENST00000396930.4:c.4253G>T	ENSP00000380136.3:p.Ser1418Ile
ENST00000406337.6:c.4259G>T	ENSP00000385888.2:p.Ser1420Ile
ENST00000648335.1:c.4253G>T	ENSP00000497086.1:p.Ser1418Ile
ENST00000649817.1:c.2934G>T
ENST00000265713.6:c.4253G>T	ENSP00000265713.2:p.Ser1418Ile
ENST00000396930.3:c.4253G>T	ENSP00000380136.3:p.Ser1418Ile
ENST00000406337.5:c.4253G>T	ENSP00000385888.1:p.Ser1418Ile
NM_001099412.1:c.4253G>T	NP_001092882.1:p.Ser1418Ile
NM_001099413.1:c.4253G>T	NP_001092883.1:p.Ser1418Ile
NM_006766.3:c.4253G>T	NP_006757.2:p.Ser1418Ile
NM_006766.4:c.4253G>T	NP_006757.2:p.Ser1418Ile
XM_011544656.1:c.4385G>T	XP_011542958.1:p.Ser1462Ile
XM_011544657.1:c.4385G>T	XP_011542959.1:p.Ser1462Ile
XM_011544658.1:c.4385G>T	XP_011542960.1:p.Ser1462Ile
XM_011544659.1:c.4364G>T	XP_011542961.1:p.Ser1455Ile
XM_011544660.1:c.4271G>T	XP_011542962.1:p.Ser1424Ile
XM_011544656.2:c.4385G>T	XP_011542958.1:p.Ser1462Ile
XM_011544657.3:c.4385G>T	XP_011542959.1:p.Ser1462Ile
XM_011544658.3:c.4385G>T	XP_011542960.1:p.Ser1462Ile
XM_011544659.2:c.4364G>T	XP_011542961.1:p.Ser1455Ile
XM_017013863.1:c.4253G>T	XP_016869352.1:p.Ser1418Ile
XM_017013864.2:c.4253G>T	XP_016869353.1:p.Ser1418Ile
XM_024447285.1:c.2825G>T	XP_024303053.1:p.Ser942Ile
NM_006766.5:c.4253G>T MANE Select	NP_006757.2:p.Ser1418Ile