Canonical Allele Identifier: CA7920645
Community Standard Title: NM_017668.3(NDE1):c.387-40G>C
Gene: NDE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15687335G>C , CM000678.2:g.15687335G>C GRCh38
NC_000016.9:g.15781192G>C , CM000678.1:g.15781192G>C GRCh37
NC_000016.8:g.15688693G>C NCBI36
NG_021210.1:g.49069G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017668.3:c.387-40G>C MANE Select NP_060138.1:n.387-40G>C
ENST00000396354.6:c.387-40G>C MANE Select ENSP00000379642.1:n.387-40G>C
NM_001143979.1:c.387-40G>C NP_001137451.1:n.387-40G>C
NM_001143979.2:c.387-40G>C NP_001137451.1:n.387-40G>C
NM_017668.2:c.387-40G>C NP_060138.1:n.387-40G>C
ENST00000342673.9:c.387-40G>C ENSP00000345892.5:n.387-40G>C
ENST00000396354.5:c.387-40G>C ENSP00000379642.1:n.387-40G>C
ENST00000396355.5:c.387-40G>C ENSP00000379643.1:n.387-40G>C
ENST00000572756.5:c.*8-40G>C ENSP00000460436.1:n.*8-40G>C
ENST00000572756.6:c.387-40G>C ENSP00000460436.2:n.387-40G>C
ENST00000573203.5:c.*139-40G>C ENSP00000460996.1:n.*139-40G>C
ENST00000574163.1:n.259-40G>C
ENST00000577101.5:c.26-40G>C
ENST00000577101.6:c.387-40G>C ENSP00000461729.2:n.387-40G>C
ENST00000674538.1:c.387-40G>C ENSP00000501547.1:n.387-40G>C
ENST00000674554.1:c.387-40G>C ENSP00000502635.1:n.387-40G>C
ENST00000674581.1:c.387-40G>C ENSP00000502100.1:n.387-40G>C
ENST00000674588.1:c.387-40G>C ENSP00000502802.1:n.387-40G>C
ENST00000674888.1:c.387-40G>C ENSP00000501936.1:n.387-40G>C
ENST00000674900.1:c.387-3809G>C ENSP00000502662.1:n.387-3809G>C
ENST00000674995.1:c.387-40G>C ENSP00000502414.1:n.387-40G>C
ENST00000675171.1:c.*139-40G>C ENSP00000501812.1:n.*139-40G>C
ENST00000675926.1:c.387-40G>C ENSP00000502354.1:n.387-40G>C
ENST00000675951.1:c.387-40G>C ENSP00000502160.1:n.387-40G>C
XM_005255396.3:c.387-40G>C XP_005255453.1:n.387-40G>C
XM_005255396.5:c.387-40G>C XP_005255453.1:n.387-40G>C
XM_006720897.2:c.483-40G>C XP_006720960.1:n.483-40G>C
XM_006720897.4:c.483-40G>C XP_006720960.1:n.483-40G>C
XM_006720898.2:c.483-40G>C XP_006720961.1:n.483-40G>C
XM_006720899.2:c.483-40G>C XP_006720962.1:n.483-40G>C
XM_006720900.2:c.387-40G>C XP_006720963.1:n.387-40G>C
XM_006720900.4:c.387-40G>C XP_006720963.1:n.387-40G>C
XM_011522549.1:c.480-40G>C XP_011520851.1:n.480-40G>C
XM_011522550.1:c.483-40G>C XP_011520852.1:n.483-40G>C
XM_011522551.1:c.483-40G>C XP_011520853.1:n.483-40G>C
XM_011522552.1:c.483-40G>C XP_011520854.1:n.483-40G>C
XM_011522553.1:c.387-40G>C XP_011520855.1:n.387-40G>C
XM_011522553.2:c.387-40G>C XP_011520855.1:n.387-40G>C
XM_011522554.1:c.483-40G>C XP_011520856.1:n.483-40G>C
XM_017023349.2:c.387-40G>C XP_016878838.1:n.387-40G>C
XM_017023350.1:c.384-40G>C XP_016878839.1:n.384-40G>C
XM_017023351.2:c.387-40G>C XP_016878840.1:n.387-40G>C
XM_017023352.2:c.387-40G>C XP_016878841.1:n.387-40G>C
XM_017023353.2:c.387-40G>C XP_016878842.1:n.387-40G>C
XM_017023354.2:c.387-40G>C XP_016878843.1:n.387-40G>C
XM_017023355.2:c.387-40G>C XP_016878844.1:n.387-40G>C
XM_017023356.2:c.387-40G>C XP_016878845.1:n.387-40G>C
XM_017023357.2:c.-10-40G>C XP_016878846.1:n.-10-40G>C