Canonical Allele Identifier: CA167066890

Gene: NUP205

Linked Data

• dbSNP Id: rs917917058
• gnomAD v2: 7-135329907-C-T
• gnomAD v3: 7-135645159-C-T
• gnomAD v4: 7-135645159-C-T
• MyVariant Identifiers: chr7:g.135329907C>T (hg19) ; chr7:g.135645159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645159C>T , CM000669.2:g.135645159C>T	GRCh38
NC_000007.13:g.135329907C>T , CM000669.1:g.135329907C>T	GRCh37
NC_000007.12:g.134980447C>T	NCBI36
NG_051184.1:g.92246C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285968.11:c.5683+141C>T MANE Select	ENSP00000285968.6:n.5683+141C>T
ENST00000285968.10:c.5683+141C>T	ENSP00000285968.6:n.5683+141C>T
ENST00000461255.5:n.890+141C>T
ENST00000477620.5:c.1405+181C>T
ENST00000490439.1:c.120+141C>T
ENST00000607647.5:n.3961+141C>T
NM_015135.2:c.5683+141C>T	NP_055950.1:n.5683+141C>T
XM_005250235.2:c.4609+141C>T	XP_005250292.1:n.4609+141C>T
NM_001329434.1:c.4609+141C>T	NP_001316363.1:n.4609+141C>T
NM_015135.3:c.5683+141C>T MANE Select	NP_055950.2:n.5683+141C>T
NM_001329434.2:c.4609+141C>T	NP_001316363.2:n.4609+141C>T