Canonical Allele Identifier: CA385697417

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68700724A>C , CM000674.2:g.68700724A>C	GRCh38
NC_000012.11:g.69094504A>C , CM000674.1:g.69094504A>C	GRCh37
NC_000012.10:g.67380771A>C	NCBI36
NG_046600.2:g.18774A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.553-2A>C MANE Select	NP_065134.1:n.553-2A>C
ENST00000229179.9:c.553-2A>C MANE Select	ENSP00000229179.4:n.553-2A>C
NM_001330192.1:c.466-2A>C	NP_001317121.1:n.466-2A>C
NM_001330192.2:c.466-2A>C	NP_001317121.1:n.466-2A>C
NM_020401.2:c.553-2A>C	NP_065134.1:n.553-2A>C
NM_020401.3:c.553-2A>C	NP_065134.1:n.553-2A>C
ENST00000229179.8:c.553-2A>C	ENSP00000229179.4:n.553-2A>C
ENST00000378905.6:c.100-2A>C	ENSP00000368185.2:n.100-2A>C
ENST00000535333.5:n.595-2A>C
ENST00000535718.5:c.*96-2A>C	ENSP00000445567.1:n.*96-2A>C
ENST00000537598.5:n.619-2012A>C
ENST00000539906.5:c.466-2A>C	ENSP00000441448.1:n.466-2A>C
XM_005269037.2:c.553-2A>C	XP_005269094.1:n.553-2A>C
XM_005269037.4:c.553-2A>C	XP_005269094.1:n.553-2A>C
XM_011538576.1:c.466-2A>C	XP_011536878.1:n.466-2A>C