Canonical Allele Identifier: CA369364647

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329731T>A (hg19) ; chr7:g.135644983T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644983T>A , CM000669.2:g.135644983T>A	GRCh38
NC_000007.13:g.135329731T>A , CM000669.1:g.135329731T>A	GRCh37
NC_000007.12:g.134980271T>A	NCBI36
NG_051184.1:g.92070T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5648T>A MANE Select	ENSP00000285968.6:p.Ile1883Asn
ENST00000285968.10:c.5648T>A	ENSP00000285968.6:p.Ile1883Asn
ENST00000461255.5:n.855T>A
ENST00000477620.5:c.1405+5T>A
ENST00000490439.1:c.85T>A
ENST00000607647.5:n.3926T>A
NM_015135.2:c.5648T>A	NP_055950.1:p.Ile1883Asn
XM_005250235.2:c.4574T>A	XP_005250292.1:p.Ile1525Asn
NM_001329434.1:c.4574T>A	NP_001316363.1:p.Ile1525Asn
NM_015135.3:c.5648T>A MANE Select	NP_055950.2:p.Ile1883Asn
NM_001329434.2:c.4574T>A	NP_001316363.2:p.Ile1525Asn