Canonical Allele Identifier: CA175938859

Gene: KAT6A

Linked Data

• dbSNP Id: rs542007117
• gnomAD v4: 8-41933204-A-G
• MyVariant Identifiers: chr8:g.41790722A>G (hg19) ; chr8:g.41933204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933204A>G , CM000670.2:g.41933204A>G	GRCh38
NC_000008.10:g.41790722A>G , CM000670.1:g.41790722A>G	GRCh37
NC_000008.9:g.41909879A>G	NCBI36
NG_042093.1:g.123823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.5016T>C MANE Select	ENSP00000265713.2:p.Pro1672=
ENST00000396930.4:c.5016T>C	ENSP00000380136.3:p.Pro1672=
ENST00000406337.6:c.5022T>C	ENSP00000385888.2:p.Pro1674=
ENST00000648335.1:c.5016T>C	ENSP00000497086.1:p.Pro1672=
ENST00000649817.1:c.3697T>C
ENST00000265713.6:c.5016T>C	ENSP00000265713.2:p.Pro1672=
ENST00000396930.3:c.5016T>C	ENSP00000380136.3:p.Pro1672=
ENST00000406337.5:c.5016T>C	ENSP00000385888.1:p.Pro1672=
NM_001099412.1:c.5016T>C	NP_001092882.1:p.Pro1672=
NM_001099413.1:c.5016T>C	NP_001092883.1:p.Pro1672=
NM_006766.3:c.5016T>C	NP_006757.2:p.Pro1672=
NM_006766.4:c.5016T>C	NP_006757.2:p.Pro1672=
XM_011544656.1:c.5148T>C	XP_011542958.1:p.Pro1716=
XM_011544657.1:c.5148T>C	XP_011542959.1:p.Pro1716=
XM_011544658.1:c.5148T>C	XP_011542960.1:p.Pro1716=
XM_011544659.1:c.5127T>C	XP_011542961.1:p.Pro1709=
XM_011544660.1:c.5034T>C	XP_011542962.1:p.Pro1678=
XM_011544656.2:c.5148T>C	XP_011542958.1:p.Pro1716=
XM_011544657.3:c.5148T>C	XP_011542959.1:p.Pro1716=
XM_011544658.3:c.5148T>C	XP_011542960.1:p.Pro1716=
XM_011544659.2:c.5127T>C	XP_011542961.1:p.Pro1709=
XM_017013863.1:c.5016T>C	XP_016869352.1:p.Pro1672=
XM_017013864.2:c.5016T>C	XP_016869353.1:p.Pro1672=
XM_024447285.1:c.3588T>C	XP_024303053.1:p.Pro1196=
NM_006766.5:c.5016T>C MANE Select	NP_006757.2:p.Pro1672=