Canonical Allele Identifier: CA369364550

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329698A>T (hg19) ; chr7:g.135644950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644950A>T , CM000669.2:g.135644950A>T	GRCh38
NC_000007.13:g.135329698A>T , CM000669.1:g.135329698A>T	GRCh37
NC_000007.12:g.134980238A>T	NCBI36
NG_051184.1:g.92037A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5615A>T MANE Select	ENSP00000285968.6:p.Tyr1872Phe
ENST00000285968.10:c.5615A>T	ENSP00000285968.6:p.Tyr1872Phe
ENST00000461255.5:n.822A>T
ENST00000477620.5:c.1377A>T
ENST00000490439.1:c.52A>T
ENST00000607647.5:n.3893A>T
NM_015135.2:c.5615A>T	NP_055950.1:p.Tyr1872Phe
XM_005250235.2:c.4541A>T	XP_005250292.1:p.Tyr1514Phe
NM_001329434.1:c.4541A>T	NP_001316363.1:p.Tyr1514Phe
NM_015135.3:c.5615A>T MANE Select	NP_055950.2:p.Tyr1872Phe
NM_001329434.2:c.4541A>T	NP_001316363.2:p.Tyr1514Phe