Canonical Allele Identifier: CA369364557

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329700G>A (hg19) ; chr7:g.135644952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644952G>A , CM000669.2:g.135644952G>A	GRCh38
NC_000007.13:g.135329700G>A , CM000669.1:g.135329700G>A	GRCh37
NC_000007.12:g.134980240G>A	NCBI36
NG_051184.1:g.92039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5617G>A MANE Select	ENSP00000285968.6:p.Val1873Ile
ENST00000285968.10:c.5617G>A	ENSP00000285968.6:p.Val1873Ile
ENST00000461255.5:n.824G>A
ENST00000477620.5:c.1379G>A
ENST00000490439.1:c.54G>A
ENST00000607647.5:n.3895G>A
NM_015135.2:c.5617G>A	NP_055950.1:p.Val1873Ile
XM_005250235.2:c.4543G>A	XP_005250292.1:p.Val1515Ile
NM_001329434.1:c.4543G>A	NP_001316363.1:p.Val1515Ile
NM_015135.3:c.5617G>A MANE Select	NP_055950.2:p.Val1873Ile
NM_001329434.2:c.4543G>A	NP_001316363.2:p.Val1515Ile