Canonical Allele Identifier: CA6677494

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68700753C>T , CM000674.2:g.68700753C>T	GRCh38
NC_000012.11:g.69094533C>T , CM000674.1:g.69094533C>T	GRCh37
NC_000012.10:g.67380800C>T	NCBI36
NG_046600.2:g.18803C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.580C>T MANE Select	NP_065134.1:p.Arg194Ter
ENST00000229179.9:c.580C>T MANE Select	ENSP00000229179.4:p.Arg194Ter
NM_001330192.1:c.493C>T	NP_001317121.1:p.Arg165Ter
NM_001330192.2:c.493C>T	NP_001317121.1:p.Arg165Ter
NM_020401.2:c.580C>T	NP_065134.1:p.Arg194Ter
NM_020401.3:c.580C>T	NP_065134.1:p.Arg194Ter
ENST00000229179.8:c.580C>T	ENSP00000229179.4:p.Arg194Ter
ENST00000378905.6:c.127C>T	ENSP00000368185.2:p.Arg43Ter
ENST00000535333.5:n.622C>T
ENST00000535718.5:c.*123C>T	ENSP00000445567.1:n.*123C>T
ENST00000537598.5:n.619-1983C>T
ENST00000539906.5:c.493C>T	ENSP00000441448.1:p.Arg165Ter
XM_005269037.2:c.580C>T	XP_005269094.1:p.Arg194Ter
XM_005269037.4:c.580C>T	XP_005269094.1:p.Arg194Ter
XM_011538576.1:c.493C>T	XP_011536878.1:p.Arg165Ter