Canonical Allele Identifier: CA238446243

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68732740G>T , CM000674.2:g.68732740G>T	GRCh38
NC_000012.11:g.69126520G>T , CM000674.1:g.69126520G>T	GRCh37
NC_000012.10:g.67412787G>T	NCBI36
NG_046600.2:g.50790G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.2101+1G>T MANE Select	NP_065134.1:n.2101+1G>T
ENST00000229179.9:c.2101+1G>T MANE Select	ENSP00000229179.4:n.2101+1G>T
NM_001330192.1:c.2014+1G>T	NP_001317121.1:n.2014+1G>T
NM_001330192.2:c.2014+1G>T	NP_001317121.1:n.2014+1G>T
NM_020401.2:c.2101+1G>T	NP_065134.1:n.2101+1G>T
NM_020401.3:c.2101+1G>T	NP_065134.1:n.2101+1G>T
ENST00000229179.8:c.2101+1G>T	ENSP00000229179.4:n.2101+1G>T
ENST00000378905.6:c.1384+1G>T	ENSP00000368185.2:n.1384+1G>T
ENST00000401003.3:n.168G>T
ENST00000535718.5:c.*1380+1G>T	ENSP00000445567.1:n.*1380+1G>T
ENST00000538993.1:c.762+1G>T	ENSP00000441334.1:n.762+1G>T
ENST00000539906.5:c.2014+1G>T	ENSP00000441448.1:n.2014+1G>T
XM_005269037.2:c.2041+1G>T	XP_005269094.1:n.2041+1G>T
XM_005269037.4:c.2041+1G>T	XP_005269094.1:n.2041+1G>T
XM_011538576.1:c.2014+1G>T	XP_011536878.1:n.2014+1G>T