Canonical Allele Identifier: CA12675906

Gene: NUP205

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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