Canonical Allele Identifier: CA833758724

Gene: NUP205

Linked Data

• dbSNP Id: rs1477139392
• MyVariant Identifiers: chr7:g.135330070G>C (hg19) ; chr7:g.135645322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645322G>C , CM000669.2:g.135645322G>C	GRCh38
NC_000007.13:g.135330070G>C , CM000669.1:g.135330070G>C	GRCh37
NC_000007.12:g.134980610G>C	NCBI36
NG_051184.1:g.92409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-146G>C MANE Select	ENSP00000285968.6:n.5684-146G>C
ENST00000285968.10:c.5684-146G>C	ENSP00000285968.6:n.5684-146G>C
ENST00000461255.5:n.891-146G>C
ENST00000477620.5:c.1405+344G>C
ENST00000490439.1:c.120+304G>C
ENST00000607647.5:n.3962-146G>C
NM_015135.2:c.5684-146G>C	NP_055950.1:n.5684-146G>C
XM_005250235.2:c.4610-146G>C	XP_005250292.1:n.4610-146G>C
NM_001329434.1:c.4610-146G>C	NP_001316363.1:n.4610-146G>C
NM_015135.3:c.5684-146G>C MANE Select	NP_055950.2:n.5684-146G>C
NM_001329434.2:c.4610-146G>C	NP_001316363.2:n.4610-146G>C