Canonical Allele Identifier: CA346879102

Gene: EML6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54891143G>T , CM000664.2:g.54891143G>T	GRCh38
NC_000002.11:g.55118280G>T , CM000664.1:g.55118280G>T	GRCh37
NC_000002.10:g.54971784G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001039753.4:c.2528G>T MANE Select	NP_001034842.2:p.Trp843Leu
ENST00000356458.8:c.2528G>T MANE Select	ENSP00000348842.6:p.Trp843Leu
NM_001039753.2:c.2528G>T	NP_001034842.2:p.Trp843Leu
ENST00000356458.6:c.2528G>T	ENSP00000348842.6:p.Trp843Leu
ENST00000356458.7:c.2528G>T	ENSP00000348842.6:p.Trp843Leu
ENST00000673695.1:c.2528G>T	ENSP00000501148.1:p.Trp843Leu
ENST00000673912.1:c.2528G>T	ENSP00000501234.1:p.Trp843Leu
XM_011532835.1:c.1802G>T	XP_011531137.1:p.Trp601Leu
XM_011532836.1:c.1802G>T	XP_011531138.1:p.Trp601Leu
XM_011532837.1:c.1802G>T	XP_011531139.1:p.Trp601Leu
XM_011532838.1:c.1436G>T	XP_011531140.1:p.Trp479Leu
XM_011532839.1:c.1337G>T	XP_011531141.1:p.Trp446Leu
XM_011532840.1:c.1337G>T	XP_011531142.1:p.Trp446Leu
XM_017004098.2:c.2528G>T	XP_016859587.1:p.Trp843Leu
XM_017004099.2:c.2528G>T	XP_016859588.1:p.Trp843Leu
XM_017004100.2:c.2528G>T	XP_016859589.1:p.Trp843Leu
XM_017004101.1:c.1436G>T	XP_016859590.1:p.Trp479Leu
XM_017004102.1:c.2528G>T	XP_016859591.1:p.Trp843Leu
XR_001738743.1:n.3352G>T
XR_002959298.1:n.3352G>T