Canonical Allele Identifier: CA6677687

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68719581C>A , CM000674.2:g.68719581C>A	GRCh38
NC_000012.11:g.69113361C>A , CM000674.1:g.69113361C>A	GRCh37
NC_000012.10:g.67399628C>A	NCBI36
NG_046600.2:g.37631C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.1178C>A MANE Select	NP_065134.1:p.Thr393Lys
ENST00000229179.9:c.1178C>A MANE Select	ENSP00000229179.4:p.Thr393Lys
NM_001330192.1:c.1091C>A	NP_001317121.1:p.Thr364Lys
NM_001330192.2:c.1091C>A	NP_001317121.1:p.Thr364Lys
NM_020401.2:c.1178C>A	NP_065134.1:p.Thr393Lys
NM_020401.3:c.1178C>A	NP_065134.1:p.Thr393Lys
ENST00000229179.8:c.1178C>A	ENSP00000229179.4:p.Thr393Lys
ENST00000378905.6:c.725C>A	ENSP00000368185.2:p.Thr242Lys
ENST00000535718.5:c.*721C>A	ENSP00000445567.1:n.*721C>A
ENST00000539906.5:c.1091C>A	ENSP00000441448.1:p.Thr364Lys
XM_005269037.2:c.1178C>A	XP_005269094.1:p.Thr393Lys
XM_005269037.4:c.1178C>A	XP_005269094.1:p.Thr393Lys
XM_011538576.1:c.1091C>A	XP_011536878.1:p.Thr364Lys