Canonical Allele Identifier: CA833758740

Gene: NUP205

Linked Data

• dbSNP Id: rs1308967776
• gnomAD v3: 7-135645351-G-A
• gnomAD v4: 7-135645351-G-A
• MyVariant Identifiers: chr7:g.135330099G>A (hg19) ; chr7:g.135645351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645351G>A , CM000669.2:g.135645351G>A	GRCh38
NC_000007.13:g.135330099G>A , CM000669.1:g.135330099G>A	GRCh37
NC_000007.12:g.134980639G>A	NCBI36
NG_051184.1:g.92438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-117G>A MANE Select	ENSP00000285968.6:n.5684-117G>A
ENST00000285968.10:c.5684-117G>A	ENSP00000285968.6:n.5684-117G>A
ENST00000461255.5:n.891-117G>A
ENST00000477620.5:c.1405+373G>A
ENST00000490439.1:c.120+333G>A
ENST00000607647.5:n.3962-117G>A
NM_015135.2:c.5684-117G>A	NP_055950.1:n.5684-117G>A
XM_005250235.2:c.4610-117G>A	XP_005250292.1:n.4610-117G>A
NM_001329434.1:c.4610-117G>A	NP_001316363.1:n.4610-117G>A
NM_015135.3:c.5684-117G>A MANE Select	NP_055950.2:n.5684-117G>A
NM_001329434.2:c.4610-117G>A	NP_001316363.2:n.4610-117G>A