Canonical Allele Identifier: CA1662080

Gene: EML6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54844082C>T , CM000664.2:g.54844082C>T	GRCh38
NC_000002.11:g.55071219C>T , CM000664.1:g.55071219C>T	GRCh37
NC_000002.10:g.54924723C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001039753.4:c.883C>T MANE Select	NP_001034842.2:p.Arg295Cys
ENST00000356458.8:c.883C>T MANE Select	ENSP00000348842.6:p.Arg295Cys
NM_001039753.2:c.883C>T	NP_001034842.2:p.Arg295Cys
ENST00000356458.6:c.883C>T	ENSP00000348842.6:p.Arg295Cys
ENST00000356458.7:c.883C>T	ENSP00000348842.6:p.Arg295Cys
ENST00000673695.1:c.883C>T	ENSP00000501148.1:p.Arg295Cys
ENST00000673912.1:c.883C>T	ENSP00000501234.1:p.Arg295Cys
XM_011532835.1:c.157C>T	XP_011531137.1:p.Arg53Cys
XM_011532836.1:c.157C>T	XP_011531138.1:p.Arg53Cys
XM_011532837.1:c.157C>T	XP_011531139.1:p.Arg53Cys
XM_011532838.1:c.-43-3404C>T	XP_011531140.1:n.-43-3404C>T
XM_011532839.1:c.-4-5880C>T	XP_011531141.1:n.-4-5880C>T
XM_017004098.2:c.883C>T	XP_016859587.1:p.Arg295Cys
XM_017004099.2:c.883C>T	XP_016859588.1:p.Arg295Cys
XM_017004100.2:c.883C>T	XP_016859589.1:p.Arg295Cys
XM_017004101.1:c.-43-3404C>T	XP_016859590.1:n.-43-3404C>T
XM_017004102.1:c.883C>T	XP_016859591.1:p.Arg295Cys
XR_001738743.1:n.1707C>T
XR_002959298.1:n.1707C>T