Canonical Allele Identifier: CA833758633

Gene: NUP205

Linked Data

• dbSNP Id: rs1358147056
• gnomAD v3: 7-135645038-G-A
• gnomAD v4: 7-135645038-G-A
• MyVariant Identifiers: chr7:g.135329786G>A (hg19) ; chr7:g.135645038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645038G>A , CM000669.2:g.135645038G>A	GRCh38
NC_000007.13:g.135329786G>A , CM000669.1:g.135329786G>A	GRCh37
NC_000007.12:g.134980326G>A	NCBI36
NG_051184.1:g.92125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+20G>A MANE Select	ENSP00000285968.6:n.5683+20G>A
ENST00000285968.10:c.5683+20G>A	ENSP00000285968.6:n.5683+20G>A
ENST00000461255.5:n.890+20G>A
ENST00000477620.5:c.1405+60G>A
ENST00000490439.1:c.120+20G>A
ENST00000607647.5:n.3961+20G>A
NM_015135.2:c.5683+20G>A	NP_055950.1:n.5683+20G>A
XM_005250235.2:c.4609+20G>A	XP_005250292.1:n.4609+20G>A
NM_001329434.1:c.4609+20G>A	NP_001316363.1:n.4609+20G>A
NM_015135.3:c.5683+20G>A MANE Select	NP_055950.2:n.5683+20G>A
NM_001329434.2:c.4609+20G>A	NP_001316363.2:n.4609+20G>A