Canonical Allele Identifier: CA2685060134

Gene: NUP205

Linked Data

• gnomAD v4: 7-135645100-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645100C>T , CM000669.2:g.135645100C>T	GRCh38
NC_000007.13:g.135329848C>T , CM000669.1:g.135329848C>T	GRCh37
NC_000007.12:g.134980388C>T	NCBI36
NG_051184.1:g.92187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+82C>T MANE Select	ENSP00000285968.6:n.5683+82C>T
ENST00000285968.10:c.5683+82C>T	ENSP00000285968.6:n.5683+82C>T
ENST00000461255.5:n.890+82C>T
ENST00000477620.5:c.1405+122C>T
ENST00000490439.1:c.120+82C>T
ENST00000607647.5:n.3961+82C>T
NM_015135.2:c.5683+82C>T	NP_055950.1:n.5683+82C>T
XM_005250235.2:c.4609+82C>T	XP_005250292.1:n.4609+82C>T
NM_001329434.1:c.4609+82C>T	NP_001316363.1:n.4609+82C>T
NM_015135.3:c.5683+82C>T MANE Select	NP_055950.2:n.5683+82C>T
NM_001329434.2:c.4609+82C>T	NP_001316363.2:n.4609+82C>T