Canonical Allele Identifier: CA2685060182
Gene: NUP205 HGNC NCBI

Linked Data

gnomAD v4: 7-135645159-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645159C>A , CM000669.2:g.135645159C>A GRCh38
NC_000007.13:g.135329907C>A , CM000669.1:g.135329907C>A GRCh37
NC_000007.12:g.134980447C>A NCBI36
NG_051184.1:g.92246C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000285968.11:c.5683+141C>A MANE Select ENSP00000285968.6:n.5683+141C>A
ENST00000285968.10:c.5683+141C>A ENSP00000285968.6:n.5683+141C>A
ENST00000461255.5:n.890+141C>A
ENST00000477620.5:c.1405+181C>A
ENST00000490439.1:c.120+141C>A
ENST00000607647.5:n.3961+141C>A
NM_015135.2:c.5683+141C>A NP_055950.1:n.5683+141C>A
XM_005250235.2:c.4609+141C>A XP_005250292.1:n.4609+141C>A
NM_001329434.1:c.4609+141C>A NP_001316363.1:n.4609+141C>A
NM_015135.3:c.5683+141C>A MANE Select NP_055950.2:n.5683+141C>A
NM_001329434.2:c.4609+141C>A NP_001316363.2:n.4609+141C>A
Search 100 bp 5'
Search 100 bp 3'