Canonical Allele Identifier: CA371064695

Gene: KAT6A

Linked Data

• dbSNP Id: rs1306148239
• gnomAD v2: 8-41790977-G-T
• MyVariant Identifiers: chr8:g.41790977G>T (hg19) ; chr8:g.41933459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933459G>T , CM000670.2:g.41933459G>T	GRCh38
NC_000008.10:g.41790977G>T , CM000670.1:g.41790977G>T	GRCh37
NC_000008.9:g.41910134G>T	NCBI36
NG_042093.1:g.123568C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4761C>A MANE Select	ENSP00000265713.2:p.Cys1587Ter
ENST00000396930.4:c.4761C>A	ENSP00000380136.3:p.Cys1587Ter
ENST00000406337.6:c.4767C>A	ENSP00000385888.2:p.Cys1589Ter
ENST00000648335.1:c.4761C>A	ENSP00000497086.1:p.Cys1587Ter
ENST00000649817.1:c.3442C>A
ENST00000265713.6:c.4761C>A	ENSP00000265713.2:p.Cys1587Ter
ENST00000396930.3:c.4761C>A	ENSP00000380136.3:p.Cys1587Ter
ENST00000406337.5:c.4761C>A	ENSP00000385888.1:p.Cys1587Ter
NM_001099412.1:c.4761C>A	NP_001092882.1:p.Cys1587Ter
NM_001099413.1:c.4761C>A	NP_001092883.1:p.Cys1587Ter
NM_006766.3:c.4761C>A	NP_006757.2:p.Cys1587Ter
NM_006766.4:c.4761C>A	NP_006757.2:p.Cys1587Ter
XM_011544656.1:c.4893C>A	XP_011542958.1:p.Cys1631Ter
XM_011544657.1:c.4893C>A	XP_011542959.1:p.Cys1631Ter
XM_011544658.1:c.4893C>A	XP_011542960.1:p.Cys1631Ter
XM_011544659.1:c.4872C>A	XP_011542961.1:p.Cys1624Ter
XM_011544660.1:c.4779C>A	XP_011542962.1:p.Cys1593Ter
XM_011544656.2:c.4893C>A	XP_011542958.1:p.Cys1631Ter
XM_011544657.3:c.4893C>A	XP_011542959.1:p.Cys1631Ter
XM_011544658.3:c.4893C>A	XP_011542960.1:p.Cys1631Ter
XM_011544659.2:c.4872C>A	XP_011542961.1:p.Cys1624Ter
XM_017013863.1:c.4761C>A	XP_016869352.1:p.Cys1587Ter
XM_017013864.2:c.4761C>A	XP_016869353.1:p.Cys1587Ter
XM_024447285.1:c.3333C>A	XP_024303053.1:p.Cys1111Ter
NM_006766.5:c.4761C>A MANE Select	NP_006757.2:p.Cys1587Ter