Canonical Allele Identifier: CA385695936

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68689610C>T , CM000674.2:g.68689610C>T	GRCh38
NC_000012.11:g.69083390C>T , CM000674.1:g.69083390C>T	GRCh37
NC_000012.10:g.67369657C>T	NCBI36
NG_046600.2:g.7660C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.178C>T MANE Select	NP_065134.1:p.Arg60Ter
ENST00000229179.9:c.178C>T MANE Select	ENSP00000229179.4:p.Arg60Ter
NM_001330192.1:c.63C>T	NP_001317121.1:p.Phe21=
NM_001330192.2:c.63C>T	NP_001317121.1:p.Phe21=
NM_020401.2:c.178C>T	NP_065134.1:p.Arg60Ter
NM_020401.3:c.178C>T	NP_065134.1:p.Arg60Ter
ENST00000229179.8:c.178C>T	ENSP00000229179.4:p.Arg60Ter
ENST00000378905.6:c.-276C>T	ENSP00000368185.2:n.-276C>T
ENST00000535333.5:n.252C>T
ENST00000535718.5:c.178C>T	ENSP00000445567.1:p.Arg60Ter
ENST00000537598.5:n.244C>T
ENST00000538549.1:c.-123C>T	ENSP00000440116.1:n.-123C>T
ENST00000539906.5:c.63C>T	ENSP00000441448.1:p.Phe21=
ENST00000540453.5:n.273C>T
XM_005269037.2:c.178C>T	XP_005269094.1:p.Arg60Ter
XM_005269037.4:c.178C>T	XP_005269094.1:p.Arg60Ter
XM_011538576.1:c.63C>T	XP_011536878.1:p.Phe21=