Canonical Allele Identifier: CA3379906

Gene: DMXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119149109G>A , CM000667.2:g.119149109G>A	GRCh38
NC_000005.9:g.118484804G>A , CM000667.1:g.118484804G>A	GRCh37
NC_000005.8:g.118512703G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539542.6:c.3282G>A MANE Select	ENSP00000439479.1:p.Glu1094=
ENST00000311085.8:c.3282G>A	ENSP00000309690.8:p.Glu1094=
ENST00000539542.5:c.3282G>A	ENSP00000439479.1:p.Glu1094=
NM_001290321.2:c.3282G>A	NP_001277250.1:p.Glu1094=
NM_001290322.2:c.2763G>A	NP_001277251.1:p.Glu921=
NM_005509.5:c.3282G>A	NP_005500.4:p.Glu1094=
XM_005271909.3:c.3282G>A	XP_005271966.1:p.Glu1094=
XM_005271910.3:c.3282G>A	XP_005271967.1:p.Glu1094=
XM_005271912.1:c.3084G>A	XP_005271969.1:p.Glu1028=
XM_011543212.1:c.3282G>A	XP_011541514.1:p.Glu1094=
XM_011543213.1:c.3282G>A	XP_011541515.1:p.Glu1094=
XM_011543214.1:c.2763G>A	XP_011541516.1:p.Glu921=
XM_011543215.1:c.2763G>A	XP_011541517.1:p.Glu921=
XR_948239.1:n.3505G>A
NM_001349239.1:c.3282G>A	NP_001336168.1:p.Glu1094=
NM_001349240.1:c.3282G>A	NP_001336169.1:p.Glu1094=
XM_005271909.4:c.3282G>A	XP_005271966.1:p.Glu1094=
XM_005271910.5:c.3282G>A	XP_005271967.1:p.Glu1094=
XM_005271912.2:c.3084G>A	XP_005271969.1:p.Glu1028=
XM_011543212.2:c.3282G>A	XP_011541514.1:p.Glu1094=
XM_011543213.2:c.3282G>A	XP_011541515.1:p.Glu1094=
XM_011543214.2:c.2763G>A	XP_011541516.1:p.Glu921=
XM_011543215.2:c.2763G>A	XP_011541517.1:p.Glu921=
XM_017009143.1:c.3084G>A	XP_016864632.1:p.Glu1028=
XM_017009144.1:c.3084G>A	XP_016864633.1:p.Glu1028=
XM_017009145.1:c.3084G>A	XP_016864634.1:p.Glu1028=
XM_017009146.1:c.3075G>A	XP_016864635.1:p.Glu1025=
XM_017009147.1:c.3282G>A	XP_016864636.1:p.Glu1094=
XM_017009148.1:c.2763G>A	XP_016864637.1:p.Glu921=
XR_001742026.2:n.3808G>A
XR_001742027.2:n.3808G>A
XR_948239.2:n.3808G>A
NM_001290322.3:c.2763G>A	NP_001277251.1:p.Glu921=
NM_001349239.2:c.3282G>A	NP_001336168.1:p.Glu1094=
NM_005509.6:c.3282G>A	NP_005500.4:p.Glu1094=
NM_001290321.3:c.3282G>A MANE Select	NP_001277250.1:p.Glu1094=
NM_001349240.2:c.3282G>A	NP_001336169.1:p.Glu1094=
NM_001387933.1:c.3282G>A	NP_001374862.1:p.Glu1094=
NM_001387934.1:c.3282G>A	NP_001374863.1:p.Glu1094=
NM_001387937.1:c.2577G>A	NP_001374866.1:p.Glu859=
NM_001387938.1:c.2295G>A	NP_001374867.1:p.Glu765=
NR_170867.1:n.3765G>A
NR_170868.1:n.3765G>A
NR_170869.1:n.5073G>A