Canonical Allele Identifier: CA385699860

Gene: NUP107

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68741976A>G , CM000674.2:g.68741976A>G	GRCh38
NC_000012.11:g.69135756A>G , CM000674.1:g.69135756A>G	GRCh37
NC_000012.10:g.67422023A>G	NCBI36
NG_046600.2:g.60026A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020401.4:c.2666A>G MANE Select	NP_065134.1:p.Tyr889Cys
ENST00000229179.9:c.2666A>G MANE Select	ENSP00000229179.4:p.Tyr889Cys
NM_001330192.1:c.2579A>G	NP_001317121.1:p.Tyr860Cys
NM_001330192.2:c.2579A>G	NP_001317121.1:p.Tyr860Cys
NM_020401.2:c.2666A>G	NP_065134.1:p.Tyr889Cys
NM_020401.3:c.2666A>G	NP_065134.1:p.Tyr889Cys
ENST00000229179.8:c.2666A>G	ENSP00000229179.4:p.Tyr889Cys
ENST00000378905.6:c.1949A>G	ENSP00000368185.2:p.Tyr650Cys
ENST00000535718.5:c.*1945A>G	ENSP00000445567.1:n.*1945A>G
ENST00000539906.5:c.2579A>G	ENSP00000441448.1:p.Tyr860Cys
XM_005269037.2:c.2606A>G	XP_005269094.1:p.Tyr869Cys
XM_005269037.4:c.2606A>G	XP_005269094.1:p.Tyr869Cys
XM_011538576.1:c.2579A>G	XP_011536878.1:p.Tyr860Cys