Canonical Allele Identifier: CA4499236

Gene: NUP205

Linked Data

• dbSNP Id: rs762662147
• ExAC: 7:135329726 G / C
• gnomAD v2: 7-135329726-G-C
• gnomAD v4: 7-135644978-G-C
• MyVariant Identifiers: chr7:g.135329726G>C (hg19) ; chr7:g.135644978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644978G>C , CM000669.2:g.135644978G>C	GRCh38
NC_000007.13:g.135329726G>C , CM000669.1:g.135329726G>C	GRCh37
NC_000007.12:g.134980266G>C	NCBI36
NG_051184.1:g.92065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5643G>C MANE Select	ENSP00000285968.6:p.Lys1881Asn
ENST00000285968.10:c.5643G>C	ENSP00000285968.6:p.Lys1881Asn
ENST00000461255.5:n.850G>C
ENST00000477620.5:c.1405G>C
ENST00000490439.1:c.80G>C
ENST00000607647.5:n.3921G>C
NM_015135.2:c.5643G>C	NP_055950.1:p.Lys1881Asn
XM_005250235.2:c.4569G>C	XP_005250292.1:p.Lys1523Asn
NM_001329434.1:c.4569G>C	NP_001316363.1:p.Lys1523Asn
NM_015135.3:c.5643G>C MANE Select	NP_055950.2:p.Lys1881Asn
NM_001329434.2:c.4569G>C	NP_001316363.2:p.Lys1523Asn