Canonical Allele Identifier: CA369364614

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329718T>A (hg19) ; chr7:g.135644970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644970T>A , CM000669.2:g.135644970T>A	GRCh38
NC_000007.13:g.135329718T>A , CM000669.1:g.135329718T>A	GRCh37
NC_000007.12:g.134980258T>A	NCBI36
NG_051184.1:g.92057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5635T>A MANE Select	ENSP00000285968.6:p.Leu1879Met
ENST00000285968.10:c.5635T>A	ENSP00000285968.6:p.Leu1879Met
ENST00000461255.5:n.842T>A
ENST00000477620.5:c.1397T>A
ENST00000490439.1:c.72T>A
ENST00000607647.5:n.3913T>A
NM_015135.2:c.5635T>A	NP_055950.1:p.Leu1879Met
XM_005250235.2:c.4561T>A	XP_005250292.1:p.Leu1521Met
NM_001329434.1:c.4561T>A	NP_001316363.1:p.Leu1521Met
NM_015135.3:c.5635T>A MANE Select	NP_055950.2:p.Leu1879Met
NM_001329434.2:c.4561T>A	NP_001316363.2:p.Leu1521Met