Canonical Allele Identifier: CA238431496

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68690748T>C , CM000674.2:g.68690748T>C	GRCh38
NC_000012.11:g.69084528T>C , CM000674.1:g.69084528T>C	GRCh37
NC_000012.10:g.67370795T>C	NCBI36
NG_046600.2:g.8798T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.303+2T>C MANE Select	NP_065134.1:n.303+2T>C
ENST00000229179.9:c.303+2T>C MANE Select	ENSP00000229179.4:n.303+2T>C
NM_001330192.1:c.216+2T>C	NP_001317121.1:n.216+2T>C
NM_001330192.2:c.216+2T>C	NP_001317121.1:n.216+2T>C
NM_020401.2:c.303+2T>C	NP_065134.1:n.303+2T>C
NM_020401.3:c.303+2T>C	NP_065134.1:n.303+2T>C
ENST00000229179.8:c.303+2T>C	ENSP00000229179.4:n.303+2T>C
ENST00000378905.6:c.-151+2T>C	ENSP00000368185.2:n.-151+2T>C
ENST00000535333.5:n.377+2T>C
ENST00000535718.5:c.303+2T>C	ENSP00000445567.1:n.303+2T>C
ENST00000537598.5:n.369+2T>C
ENST00000538549.1:c.3+2T>C	ENSP00000440116.1:n.3+2T>C
ENST00000539373.1:n.76+2T>C
ENST00000539906.5:c.216+2T>C	ENSP00000441448.1:n.216+2T>C
ENST00000545140.1:n.279+2T>C
XM_005269037.2:c.303+2T>C	XP_005269094.1:n.303+2T>C
XM_005269037.4:c.303+2T>C	XP_005269094.1:n.303+2T>C
XM_011538576.1:c.216+2T>C	XP_011536878.1:n.216+2T>C