Canonical Allele Identifier: CA7340016

Gene: SETD3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99398848C>T , CM000676.2:g.99398848C>T	GRCh38
NC_000014.8:g.99865185C>T , CM000676.1:g.99865185C>T	GRCh37
NC_000014.7:g.98934938C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331768.10:c.1616G>A MANE Select	ENSP00000327436.5:p.Arg539Lys
ENST00000331768.9:c.1616G>A	ENSP00000327436.5:p.Arg539Lys
ENST00000446066.5:c.*1047G>A	ENSP00000396870.1:n.*1047G>A
ENST00000489770.1:n.739G>A
NM_032233.2:c.1616G>A	NP_115609.2:p.Arg539Lys
XM_005268127.2:c.1319G>A	XP_005268184.1:p.Arg440Lys
XM_011537231.1:c.1781G>A	XP_011535533.1:p.Arg594Lys
XM_011537232.1:c.1616G>A	XP_011535534.1:p.Arg539Lys
XM_011537233.1:c.1442G>A	XP_011535535.1:p.Arg481Lys
XM_011537234.1:c.1319G>A	XP_011535536.1:p.Arg440Lys
XM_005268127.3:c.1319G>A	XP_005268184.1:p.Arg440Lys
XM_011537231.2:c.1616G>A	XP_011535533.2:p.Arg539Lys
XM_011537232.3:c.1616G>A	XP_011535534.1:p.Arg539Lys
XM_011537233.2:c.1442G>A	XP_011535535.1:p.Arg481Lys
XM_017021699.1:c.1616G>A	XP_016877188.1:p.Arg539Lys
XM_017021700.1:c.1616G>A	XP_016877189.1:p.Arg539Lys
XM_017021701.1:c.1442G>A	XP_016877190.1:p.Arg481Lys
XM_017021702.1:c.1145G>A	XP_016877191.1:p.Arg382Lys
NM_032233.3:c.1616G>A MANE Select	NP_115609.2:p.Arg539Lys