Canonical Allele Identifier: CA2715626910
Gene: NUP205 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135621138C>T , CM000669.2:g.135621138C>T GRCh38
NC_000007.13:g.135305886C>T , CM000669.1:g.135305886C>T GRCh37
NC_000007.12:g.134956426C>T NCBI36
NG_051184.1:g.68225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000285968.11:c.4330+1250C>T MANE Select ENSP00000285968.6:n.4330+1250C>T
ENST00000285968.10:c.4330+1250C>T ENSP00000285968.6:n.4330+1250C>T
ENST00000477620.5:c.75+1250C>T
ENST00000607647.5:n.2608+1250C>T
NM_015135.2:c.4330+1250C>T NP_055950.1:n.4330+1250C>T
XM_005250235.2:c.3256+1250C>T XP_005250292.1:n.3256+1250C>T
NM_001329434.1:c.3256+1250C>T NP_001316363.1:n.3256+1250C>T
NM_015135.3:c.4330+1250C>T MANE Select NP_055950.2:n.4330+1250C>T
NM_001329434.2:c.3256+1250C>T NP_001316363.2:n.3256+1250C>T