Canonical Allele Identifier: CA369364738

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135330217T>A (hg19) ; chr7:g.135645469T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645469T>A , CM000669.2:g.135645469T>A	GRCh38
NC_000007.13:g.135330217T>A , CM000669.1:g.135330217T>A	GRCh37
NC_000007.12:g.134980757T>A	NCBI36
NG_051184.1:g.92556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5685T>A MANE Select	ENSP00000285968.6:p.Phe1895Leu
ENST00000285968.10:c.5685T>A	ENSP00000285968.6:p.Phe1895Leu
ENST00000461255.5:n.892T>A
ENST00000477620.5:c.1405+491T>A
ENST00000490439.1:c.121-372T>A
ENST00000607647.5:n.3963T>A
NM_015135.2:c.5685T>A	NP_055950.1:p.Phe1895Leu
XM_005250235.2:c.4611T>A	XP_005250292.1:p.Phe1537Leu
NM_001329434.1:c.4611T>A	NP_001316363.1:p.Phe1537Leu
NM_015135.3:c.5685T>A MANE Select	NP_055950.2:p.Phe1895Leu
NM_001329434.2:c.4611T>A	NP_001316363.2:p.Phe1537Leu