Canonical Allele Identifier: CA151388
Community Standard Title: NM_153485.3(NUP155):c.1172G>A (p.Arg391His)
Gene: NUP155 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37341164C>T , CM000667.2:g.37341164C>T GRCh38
NC_000005.9:g.37341266C>T , CM000667.1:g.37341266C>T GRCh37
NC_000005.8:g.37377023C>T NCBI36
NG_034131.1:g.34963G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153485.3:c.1172G>A MANE Select NP_705618.1:p.Arg391His
ENST00000231498.8:c.1172G>A MANE Select ENSP00000231498.3:p.Arg391His
NM_001278312.1:c.1172G>A NP_001265241.1:p.Arg391His
NM_001278312.2:c.1172G>A NP_001265241.1:p.Arg391His
NM_004298.3:c.995G>A NP_004289.1:p.Arg332His
NM_004298.4:c.995G>A NP_004289.1:p.Arg332His
NM_153485.2:c.1172G>A NP_705618.1:p.Arg391His
ENST00000231498.7:c.1172G>A ENSP00000231498.3:p.Arg391His
ENST00000381843.6:c.995G>A ENSP00000371265.2:p.Arg332His
ENST00000513532.1:c.1172G>A ENSP00000422019.1:p.Arg391His
XM_011514164.1:c.1172G>A XP_011512466.1:p.Arg391His
XM_011514165.1:c.1172G>A XP_011512467.1:p.Arg391His
XM_011514165.3:c.1172G>A XP_011512467.1:p.Arg391His
XM_011514166.1:c.1172G>A XP_011512468.1:p.Arg391His
XR_001742368.2:n.1290G>A
XR_001742369.2:n.1290G>A