Canonical Allele Identifier: CA369364521

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329691C>G (hg19) ; chr7:g.135644943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644943C>G , CM000669.2:g.135644943C>G	GRCh38
NC_000007.13:g.135329691C>G , CM000669.1:g.135329691C>G	GRCh37
NC_000007.12:g.134980231C>G	NCBI36
NG_051184.1:g.92030C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5608C>G MANE Select	ENSP00000285968.6:p.Gln1870Glu
ENST00000285968.10:c.5608C>G	ENSP00000285968.6:p.Gln1870Glu
ENST00000461255.5:n.815C>G
ENST00000477620.5:c.1370C>G
ENST00000490439.1:c.45C>G
ENST00000607647.5:n.3886C>G
NM_015135.2:c.5608C>G	NP_055950.1:p.Gln1870Glu
XM_005250235.2:c.4534C>G	XP_005250292.1:p.Gln1512Glu
NM_001329434.1:c.4534C>G	NP_001316363.1:p.Gln1512Glu
NM_015135.3:c.5608C>G MANE Select	NP_055950.2:p.Gln1870Glu
NM_001329434.2:c.4534C>G	NP_001316363.2:p.Gln1512Glu