Canonical Allele Identifier: CA369364643

Gene: NUP205

Linked Data

• MyVariant Identifiers: chr7:g.135329728T>C (hg19) ; chr7:g.135644980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135644980T>C , CM000669.2:g.135644980T>C	GRCh38
NC_000007.13:g.135329728T>C , CM000669.1:g.135329728T>C	GRCh37
NC_000007.12:g.134980268T>C	NCBI36
NG_051184.1:g.92067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5645T>C MANE Select	ENSP00000285968.6:p.Val1882Ala
ENST00000285968.10:c.5645T>C	ENSP00000285968.6:p.Val1882Ala
ENST00000461255.5:n.852T>C
ENST00000477620.5:c.1405+2T>C
ENST00000490439.1:c.82T>C
ENST00000607647.5:n.3923T>C
NM_015135.2:c.5645T>C	NP_055950.1:p.Val1882Ala
XM_005250235.2:c.4571T>C	XP_005250292.1:p.Val1524Ala
NM_001329434.1:c.4571T>C	NP_001316363.1:p.Val1524Ala
NM_015135.3:c.5645T>C MANE Select	NP_055950.2:p.Val1882Ala
NM_001329434.2:c.4571T>C	NP_001316363.2:p.Val1524Ala