Canonical Allele Identifier: CA2685060258

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645357-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645357G>C , CM000669.2:g.135645357G>C	GRCh38
NC_000007.13:g.135330105G>C , CM000669.1:g.135330105G>C	GRCh37
NC_000007.12:g.134980645G>C	NCBI36
NG_051184.1:g.92444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-111G>C MANE Select	ENSP00000285968.6:n.5684-111G>C
ENST00000285968.10:c.5684-111G>C	ENSP00000285968.6:n.5684-111G>C
ENST00000461255.5:n.891-111G>C
ENST00000477620.5:c.1405+379G>C
ENST00000490439.1:c.120+339G>C
ENST00000607647.5:n.3962-111G>C
NM_015135.2:c.5684-111G>C	NP_055950.1:n.5684-111G>C
XM_005250235.2:c.4610-111G>C	XP_005250292.1:n.4610-111G>C
NM_001329434.1:c.4610-111G>C	NP_001316363.1:n.4610-111G>C
NM_015135.3:c.5684-111G>C MANE Select	NP_055950.2:n.5684-111G>C
NM_001329434.2:c.4610-111G>C	NP_001316363.2:n.4610-111G>C