Canonical Allele Identifier: CA369364594

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329711A>C (hg19) ; chr7:g.135644963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644963A>C , CM000669.2:g.135644963A>C	GRCh38
NC_000007.13:g.135329711A>C , CM000669.1:g.135329711A>C	GRCh37
NC_000007.12:g.134980251A>C	NCBI36
NG_051184.1:g.92050A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5628A>C MANE Select	ENSP00000285968.6:p.Arg1876Ser
ENST00000285968.10:c.5628A>C	ENSP00000285968.6:p.Arg1876Ser
ENST00000461255.5:n.835A>C
ENST00000477620.5:c.1390A>C
ENST00000490439.1:c.65A>C
ENST00000607647.5:n.3906A>C
NM_015135.2:c.5628A>C	NP_055950.1:p.Arg1876Ser
XM_005250235.2:c.4554A>C	XP_005250292.1:p.Arg1518Ser
NM_001329434.1:c.4554A>C	NP_001316363.1:p.Arg1518Ser
NM_015135.3:c.5628A>C MANE Select	NP_055950.2:p.Arg1876Ser
NM_001329434.2:c.4554A>C	NP_001316363.2:p.Arg1518Ser