Canonical Allele Identifier: CA167066930

Gene: NUP205

Linked Data

• dbSNP Id: rs1015733250
• gnomAD v4: 7-135645414-T-G
• MyVariant Identifiers: chr7:g.135330162T>G (hg19) ; chr7:g.135645414T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645414T>G , CM000669.2:g.135645414T>G	GRCh38
NC_000007.13:g.135330162T>G , CM000669.1:g.135330162T>G	GRCh37
NC_000007.12:g.134980702T>G	NCBI36
NG_051184.1:g.92501T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-54T>G MANE Select	ENSP00000285968.6:n.5684-54T>G
ENST00000285968.10:c.5684-54T>G	ENSP00000285968.6:n.5684-54T>G
ENST00000461255.5:n.891-54T>G
ENST00000477620.5:c.1405+436T>G
ENST00000490439.1:c.120+396T>G
ENST00000607647.5:n.3962-54T>G
NM_015135.2:c.5684-54T>G	NP_055950.1:n.5684-54T>G
XM_005250235.2:c.4610-54T>G	XP_005250292.1:n.4610-54T>G
NM_001329434.1:c.4610-54T>G	NP_001316363.1:n.4610-54T>G
NM_015135.3:c.5684-54T>G MANE Select	NP_055950.2:n.5684-54T>G
NM_001329434.2:c.4610-54T>G	NP_001316363.2:n.4610-54T>G