Canonical Allele Identifier: CA2715697435
Gene: NUP205 HGNC NCBI

Linked Data

dbSNP Id: rs1794981257

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645069C>T , CM000669.2:g.135645069C>T GRCh38
NC_000007.13:g.135329817C>T , CM000669.1:g.135329817C>T GRCh37
NC_000007.12:g.134980357C>T NCBI36
NG_051184.1:g.92156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000285968.11:c.5683+51C>T MANE Select ENSP00000285968.6:n.5683+51C>T
ENST00000285968.10:c.5683+51C>T ENSP00000285968.6:n.5683+51C>T
ENST00000461255.5:n.890+51C>T
ENST00000477620.5:c.1405+91C>T
ENST00000490439.1:c.120+51C>T
ENST00000607647.5:n.3961+51C>T
NM_015135.2:c.5683+51C>T NP_055950.1:n.5683+51C>T
XM_005250235.2:c.4609+51C>T XP_005250292.1:n.4609+51C>T
NM_001329434.1:c.4609+51C>T NP_001316363.1:n.4609+51C>T
NM_015135.3:c.5683+51C>T MANE Select NP_055950.2:n.5683+51C>T
NM_001329434.2:c.4609+51C>T NP_001316363.2:n.4609+51C>T