Canonical Allele Identifier: CA371065788

Gene: KAT6A

Linked Data

• dbSNP Id: rs1181392940
• gnomAD v2: 8-41791289-G-C
• gnomAD v3: 8-41933771-G-C
• gnomAD v4: 8-41933771-G-C
• MyVariant Identifiers: chr8:g.41791289G>C (hg19) ; chr8:g.41933771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933771G>C , CM000670.2:g.41933771G>C	GRCh38
NC_000008.10:g.41791289G>C , CM000670.1:g.41791289G>C	GRCh37
NC_000008.9:g.41910446G>C	NCBI36
NG_042093.1:g.123256C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265713.8:c.4449C>G MANE Select	ENSP00000265713.2:p.Ile1483Met
ENST00000396930.4:c.4449C>G	ENSP00000380136.3:p.Ile1483Met
ENST00000406337.6:c.4455C>G	ENSP00000385888.2:p.Ile1485Met
ENST00000648335.1:c.4449C>G	ENSP00000497086.1:p.Ile1483Met
ENST00000649817.1:c.3130C>G
ENST00000265713.6:c.4449C>G	ENSP00000265713.2:p.Ile1483Met
ENST00000396930.3:c.4449C>G	ENSP00000380136.3:p.Ile1483Met
ENST00000406337.5:c.4449C>G	ENSP00000385888.1:p.Ile1483Met
NM_001099412.1:c.4449C>G	NP_001092882.1:p.Ile1483Met
NM_001099413.1:c.4449C>G	NP_001092883.1:p.Ile1483Met
NM_006766.3:c.4449C>G	NP_006757.2:p.Ile1483Met
NM_006766.4:c.4449C>G	NP_006757.2:p.Ile1483Met
XM_011544656.1:c.4581C>G	XP_011542958.1:p.Ile1527Met
XM_011544657.1:c.4581C>G	XP_011542959.1:p.Ile1527Met
XM_011544658.1:c.4581C>G	XP_011542960.1:p.Ile1527Met
XM_011544659.1:c.4560C>G	XP_011542961.1:p.Ile1520Met
XM_011544660.1:c.4467C>G	XP_011542962.1:p.Ile1489Met
XM_011544656.2:c.4581C>G	XP_011542958.1:p.Ile1527Met
XM_011544657.3:c.4581C>G	XP_011542959.1:p.Ile1527Met
XM_011544658.3:c.4581C>G	XP_011542960.1:p.Ile1527Met
XM_011544659.2:c.4560C>G	XP_011542961.1:p.Ile1520Met
XM_017013863.1:c.4449C>G	XP_016869352.1:p.Ile1483Met
XM_017013864.2:c.4449C>G	XP_016869353.1:p.Ile1483Met
XM_024447285.1:c.3021C>G	XP_024303053.1:p.Ile1007Met
NM_006766.5:c.4449C>G MANE Select	NP_006757.2:p.Ile1483Met