Canonical Allele Identifier: CA385694986

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68721868G>A , CM000674.2:g.68721868G>A	GRCh38
NC_000012.11:g.69115648G>A , CM000674.1:g.69115648G>A	GRCh37
NC_000012.10:g.67401915G>A	NCBI36
NG_046600.2:g.39918G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.1339G>A MANE Select	NP_065134.1:p.Asp447Asn
ENST00000229179.9:c.1339G>A MANE Select	ENSP00000229179.4:p.Asp447Asn
NM_001330192.1:c.1252G>A	NP_001317121.1:p.Asp418Asn
NM_001330192.2:c.1252G>A	NP_001317121.1:p.Asp418Asn
NM_020401.2:c.1339G>A	NP_065134.1:p.Asp447Asn
NM_020401.3:c.1339G>A	NP_065134.1:p.Asp447Asn
ENST00000229179.8:c.1339G>A	ENSP00000229179.4:p.Asp447Asn
ENST00000378905.6:c.886G>A	ENSP00000368185.2:p.Asp296Asn
ENST00000535718.5:c.*882G>A	ENSP00000445567.1:n.*882G>A
ENST00000538993.1:c.70G>A	ENSP00000441334.1:p.Asp24Asn
ENST00000539906.5:c.1252G>A	ENSP00000441448.1:p.Asp418Asn
XM_005269037.2:c.1279G>A	XP_005269094.1:p.Asp427Asn
XM_005269037.4:c.1279G>A	XP_005269094.1:p.Asp427Asn
XM_011538576.1:c.1252G>A	XP_011536878.1:p.Asp418Asn