Canonical Allele Identifier: CA369364593

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329710G>T (hg19) ; chr7:g.135644962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644962G>T , CM000669.2:g.135644962G>T	GRCh38
NC_000007.13:g.135329710G>T , CM000669.1:g.135329710G>T	GRCh37
NC_000007.12:g.134980250G>T	NCBI36
NG_051184.1:g.92049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5627G>T MANE Select	ENSP00000285968.6:p.Arg1876Ile
ENST00000285968.10:c.5627G>T	ENSP00000285968.6:p.Arg1876Ile
ENST00000461255.5:n.834G>T
ENST00000477620.5:c.1389G>T
ENST00000490439.1:c.64G>T
ENST00000607647.5:n.3905G>T
NM_015135.2:c.5627G>T	NP_055950.1:p.Arg1876Ile
XM_005250235.2:c.4553G>T	XP_005250292.1:p.Arg1518Ile
NM_001329434.1:c.4553G>T	NP_001316363.1:p.Arg1518Ile
NM_015135.3:c.5627G>T MANE Select	NP_055950.2:p.Arg1876Ile
NM_001329434.2:c.4553G>T	NP_001316363.2:p.Arg1518Ile