Canonical Allele Identifier: CA7920739

Gene: NDE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15691279G>A , CM000678.2:g.15691279G>A	GRCh38
NC_000016.9:g.15785136G>A , CM000678.1:g.15785136G>A	GRCh37
NC_000016.8:g.15692637G>A	NCBI36
NG_021210.1:g.53013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396354.6:c.659G>A MANE Select	ENSP00000379642.1:p.Arg220Gln
ENST00000572756.6:c.659G>A	ENSP00000460436.2:p.Arg220Gln
ENST00000577101.6:c.659G>A	ENSP00000461729.2:p.Arg220Gln
ENST00000674538.1:c.659G>A	ENSP00000501547.1:p.Arg220Gln
ENST00000674554.1:c.659G>A	ENSP00000502635.1:p.Arg220Gln
ENST00000674581.1:c.659G>A	ENSP00000502100.1:p.Arg220Gln
ENST00000674588.1:c.659G>A	ENSP00000502802.1:p.Arg220Gln
ENST00000674888.1:c.659G>A	ENSP00000501936.1:p.Arg220Gln
ENST00000674900.1:c.*60G>A	ENSP00000502662.1:n.*60G>A
ENST00000674995.1:c.659G>A	ENSP00000502414.1:p.Arg220Gln
ENST00000675171.1:c.*411G>A	ENSP00000501812.1:n.*411G>A
ENST00000675926.1:c.659G>A	ENSP00000502354.1:p.Arg220Gln
ENST00000675951.1:c.659G>A	ENSP00000502160.1:p.Arg220Gln
ENST00000342673.9:c.659G>A	ENSP00000345892.5:p.Arg220Gln
ENST00000396354.5:c.659G>A	ENSP00000379642.1:p.Arg220Gln
ENST00000396355.5:c.659G>A	ENSP00000379643.1:p.Arg220Gln
ENST00000572756.5:c.*280G>A	ENSP00000460436.1:n.*280G>A
ENST00000572967.1:c.38G>A	ENSP00000459918.1:p.Arg13Gln
ENST00000573694.5:c.117G>A
ENST00000574109.5:c.221G>A	ENSP00000459875.1:p.Arg74Gln
ENST00000576502.5:c.80G>A	ENSP00000461748.1:p.Arg27Gln
ENST00000577101.5:c.298G>A
NM_001143979.1:c.659G>A	NP_001137451.1:p.Arg220Gln
NM_017668.2:c.659G>A	NP_060138.1:p.Arg220Gln
XM_005255396.3:c.659G>A	XP_005255453.1:p.Arg220Gln
XM_006720897.2:c.755G>A	XP_006720960.1:p.Arg252Gln
XM_006720898.2:c.755G>A	XP_006720961.1:p.Arg252Gln
XM_006720899.2:c.755G>A	XP_006720962.1:p.Arg252Gln
XM_006720900.2:c.659G>A	XP_006720963.1:p.Arg220Gln
XM_011522549.1:c.752G>A	XP_011520851.1:p.Arg251Gln
XM_011522550.1:c.755G>A	XP_011520852.1:p.Arg252Gln
XM_011522551.1:c.755G>A	XP_011520853.1:p.Arg252Gln
XM_011522552.1:c.755G>A	XP_011520854.1:p.Arg252Gln
XM_011522553.1:c.659G>A	XP_011520855.1:p.Arg220Gln
XM_011522554.1:c.755G>A	XP_011520856.1:p.Arg252Gln
XM_005255396.5:c.659G>A	XP_005255453.1:p.Arg220Gln
XM_006720897.4:c.755G>A	XP_006720960.1:p.Arg252Gln
XM_006720900.4:c.659G>A	XP_006720963.1:p.Arg220Gln
XM_011522553.2:c.659G>A	XP_011520855.1:p.Arg220Gln
XM_017023349.2:c.659G>A	XP_016878838.1:p.Arg220Gln
XM_017023350.1:c.656G>A	XP_016878839.1:p.Arg219Gln
XM_017023351.2:c.659G>A	XP_016878840.1:p.Arg220Gln
XM_017023352.2:c.659G>A	XP_016878841.1:p.Arg220Gln
XM_017023353.2:c.659G>A	XP_016878842.1:p.Arg220Gln
XM_017023354.2:c.659G>A	XP_016878843.1:p.Arg220Gln
XM_017023355.2:c.659G>A	XP_016878844.1:p.Arg220Gln
XM_017023356.2:c.659G>A	XP_016878845.1:p.Arg220Gln
XM_017023357.2:c.263G>A	XP_016878846.1:p.Arg88Gln
NM_017668.3:c.659G>A MANE Select	NP_060138.1:p.Arg220Gln
NM_001143979.2:c.659G>A	NP_001137451.1:p.Arg220Gln