Canonical Allele Identifier: CA394838958

Gene: NDE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15696832A>C , CM000678.2:g.15696832A>C	GRCh38
NC_000016.9:g.15790689A>C , CM000678.1:g.15790689A>C	GRCh37
NC_000016.8:g.15698190A>C	NCBI36
NG_021210.1:g.58566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396354.6:c.919A>C MANE Select	ENSP00000379642.1:p.Ser307Arg
ENST00000572756.6:c.795+2576A>C	ENSP00000460436.2:n.795+2576A>C
ENST00000577101.6:c.1002A>C	ENSP00000461729.2:p.Ala334=
ENST00000674538.1:c.795+2576A>C	ENSP00000501547.1:n.795+2576A>C
ENST00000674554.1:c.919A>C	ENSP00000502635.1:p.Ser307Arg
ENST00000674581.1:c.827A>C	ENSP00000502100.1:p.Gln276Pro
ENST00000674588.1:c.795+2576A>C	ENSP00000502802.1:n.795+2576A>C
ENST00000674888.1:c.919A>C	ENSP00000501936.1:p.Ser307Arg
ENST00000674900.1:c.*320A>C	ENSP00000502662.1:n.*320A>C
ENST00000674995.1:c.795+2576A>C	ENSP00000502414.1:n.795+2576A>C
ENST00000675171.1:c.*671A>C	ENSP00000501812.1:n.*671A>C
ENST00000675926.1:c.919A>C	ENSP00000502354.1:p.Ser307Arg
ENST00000675951.1:c.919A>C	ENSP00000502160.1:p.Ser307Arg
ENST00000342673.9:c.919A>C	ENSP00000345892.5:p.Ser307Arg
ENST00000396354.5:c.919A>C	ENSP00000379642.1:p.Ser307Arg
ENST00000396355.5:c.919A>C	ENSP00000379643.1:p.Ser307Arg
ENST00000572967.1:c.298A>C	ENSP00000459918.1:p.Ser100Arg
ENST00000573694.5:c.253+2576A>C
ENST00000574109.5:c.481A>C	ENSP00000459875.1:p.Ser161Arg
ENST00000576502.5:c.340A>C	ENSP00000461748.1:p.Ser114Arg
NM_001143979.1:c.919A>C	NP_001137451.1:p.Ser307Arg
NM_017668.2:c.919A>C	NP_060138.1:p.Ser307Arg
XM_005255396.3:c.919A>C	XP_005255453.1:p.Ser307Arg
XM_006720897.2:c.1015A>C	XP_006720960.1:p.Ser339Arg
XM_006720898.2:c.1015A>C	XP_006720961.1:p.Ser339Arg
XM_006720899.2:c.1015A>C	XP_006720962.1:p.Ser339Arg
XM_006720900.2:c.919A>C	XP_006720963.1:p.Ser307Arg
XM_011522549.1:c.1012A>C	XP_011520851.1:p.Ser338Arg
XM_011522550.1:c.1094A>C	XP_011520852.1:p.Gln365Pro
XM_011522551.1:c.1094A>C	XP_011520853.1:p.Gln365Pro
XM_011522552.1:c.891+2576A>C	XP_011520854.1:n.891+2576A>C
XM_011522553.1:c.919A>C	XP_011520855.1:p.Ser307Arg
XM_011522554.1:c.891+2576A>C	XP_011520856.1:n.891+2576A>C
XM_005255396.5:c.919A>C	XP_005255453.1:p.Ser307Arg
XM_006720897.4:c.1015A>C	XP_006720960.1:p.Ser339Arg
XM_006720900.4:c.919A>C	XP_006720963.1:p.Ser307Arg
XM_011522553.2:c.919A>C	XP_011520855.1:p.Ser307Arg
XM_017023349.2:c.919A>C	XP_016878838.1:p.Ser307Arg
XM_017023350.1:c.916A>C	XP_016878839.1:p.Ser306Arg
XM_017023351.2:c.998A>C	XP_016878840.1:p.Gln333Pro
XM_017023352.2:c.998A>C	XP_016878841.1:p.Gln333Pro
XM_017023353.2:c.919A>C	XP_016878842.1:p.Ser307Arg
XM_017023354.2:c.795+2576A>C	XP_016878843.1:n.795+2576A>C
XM_017023355.2:c.795+2576A>C	XP_016878844.1:n.795+2576A>C
XM_017023356.2:c.919A>C	XP_016878845.1:p.Ser307Arg
XM_017023357.2:c.523A>C	XP_016878846.1:p.Ser175Arg
NM_017668.3:c.919A>C MANE Select	NP_060138.1:p.Ser307Arg
NM_001143979.2:c.919A>C	NP_001137451.1:p.Ser307Arg