Canonical Allele Identifier: CA2685060388

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645450-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645450A>C , CM000669.2:g.135645450A>C	GRCh38
NC_000007.13:g.135330198A>C , CM000669.1:g.135330198A>C	GRCh37
NC_000007.12:g.134980738A>C	NCBI36
NG_051184.1:g.92537A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-18A>C MANE Select	ENSP00000285968.6:n.5684-18A>C
ENST00000285968.10:c.5684-18A>C	ENSP00000285968.6:n.5684-18A>C
ENST00000461255.5:n.891-18A>C
ENST00000477620.5:c.1405+472A>C
ENST00000490439.1:c.121-391A>C
ENST00000607647.5:n.3962-18A>C
NM_015135.2:c.5684-18A>C	NP_055950.1:n.5684-18A>C
XM_005250235.2:c.4610-18A>C	XP_005250292.1:n.4610-18A>C
NM_001329434.1:c.4610-18A>C	NP_001316363.1:n.4610-18A>C
NM_015135.3:c.5684-18A>C MANE Select	NP_055950.2:n.5684-18A>C
NM_001329434.2:c.4610-18A>C	NP_001316363.2:n.4610-18A>C