Canonical Allele Identifier: CA577830242

Gene: NUP205

Linked Data

• gnomAD v2: 7-135330083-C-T
• MyVariant Identifiers: chr7:g.135330083C>T (hg19) ; chr7:g.135645335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645335C>T , CM000669.2:g.135645335C>T	GRCh38
NC_000007.13:g.135330083C>T , CM000669.1:g.135330083C>T	GRCh37
NC_000007.12:g.134980623C>T	NCBI36
NG_051184.1:g.92422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285968.11:c.5684-133C>T MANE Select	ENSP00000285968.6:n.5684-133C>T
ENST00000285968.10:c.5684-133C>T	ENSP00000285968.6:n.5684-133C>T
ENST00000461255.5:n.891-133C>T
ENST00000477620.5:c.1405+357C>T
ENST00000490439.1:c.120+317C>T
ENST00000607647.5:n.3962-133C>T
NM_015135.2:c.5684-133C>T	NP_055950.1:n.5684-133C>T
XM_005250235.2:c.4610-133C>T	XP_005250292.1:n.4610-133C>T
NM_001329434.1:c.4610-133C>T	NP_001316363.1:n.4610-133C>T
NM_015135.3:c.5684-133C>T MANE Select	NP_055950.2:n.5684-133C>T
NM_001329434.2:c.4610-133C>T	NP_001316363.2:n.4610-133C>T