Canonical Allele Identifier: CA385692838

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68715720C>T , CM000674.2:g.68715720C>T	GRCh38
NC_000012.11:g.69109500C>T , CM000674.1:g.69109500C>T	GRCh37
NC_000012.10:g.67395767C>T	NCBI36
NG_046600.2:g.33770C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.1063C>T MANE Select	NP_065134.1:p.Arg355Cys
ENST00000229179.9:c.1063C>T MANE Select	ENSP00000229179.4:p.Arg355Cys
NM_001330192.1:c.976C>T	NP_001317121.1:p.Arg326Cys
NM_001330192.2:c.976C>T	NP_001317121.1:p.Arg326Cys
NM_020401.2:c.1063C>T	NP_065134.1:p.Arg355Cys
NM_020401.3:c.1063C>T	NP_065134.1:p.Arg355Cys
ENST00000229179.8:c.1063C>T	ENSP00000229179.4:p.Arg355Cys
ENST00000378905.6:c.610C>T	ENSP00000368185.2:p.Arg204Cys
ENST00000535718.5:c.*606C>T	ENSP00000445567.1:n.*606C>T
ENST00000539906.5:c.976C>T	ENSP00000441448.1:p.Arg326Cys
XM_005269037.2:c.1063C>T	XP_005269094.1:p.Arg355Cys
XM_005269037.4:c.1063C>T	XP_005269094.1:p.Arg355Cys
XM_011538576.1:c.976C>T	XP_011536878.1:p.Arg326Cys