Canonical Allele Identifier: CA833758660

Gene: NUP205

Linked Data

• dbSNP Id: rs1321379475
• gnomAD v3: 7-135645155-T-C
• gnomAD v4: 7-135645155-T-C
• MyVariant Identifiers: chr7:g.135329903T>C (hg19) ; chr7:g.135645155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645155T>C , CM000669.2:g.135645155T>C	GRCh38
NC_000007.13:g.135329903T>C , CM000669.1:g.135329903T>C	GRCh37
NC_000007.12:g.134980443T>C	NCBI36
NG_051184.1:g.92242T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285968.11:c.5683+137T>C MANE Select	ENSP00000285968.6:n.5683+137T>C
ENST00000285968.10:c.5683+137T>C	ENSP00000285968.6:n.5683+137T>C
ENST00000461255.5:n.890+137T>C
ENST00000477620.5:c.1405+177T>C
ENST00000490439.1:c.120+137T>C
ENST00000607647.5:n.3961+137T>C
NM_015135.2:c.5683+137T>C	NP_055950.1:n.5683+137T>C
XM_005250235.2:c.4609+137T>C	XP_005250292.1:n.4609+137T>C
NM_001329434.1:c.4609+137T>C	NP_001316363.1:n.4609+137T>C
NM_015135.3:c.5683+137T>C MANE Select	NP_055950.2:n.5683+137T>C
NM_001329434.2:c.4609+137T>C	NP_001316363.2:n.4609+137T>C