Canonical Allele Identifier: CA457931796
Gene: NUP205 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.135329753T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.135645005T>C , CM000669.2:g.135645005T>C GRCh38
NC_000007.13:g.135329753T>C , CM000669.1:g.135329753T>C GRCh37
NC_000007.12:g.134980293T>C NCBI36
NG_051184.1:g.92092T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285968.11:c.5670T>C MANE Select ENSP00000285968.6:p.Leu1890=
ENST00000285968.10:c.5670T>C ENSP00000285968.6:p.Leu1890=
ENST00000461255.5:n.877T>C
ENST00000477620.5:c.1405+27T>C
ENST00000490439.1:c.107T>C
ENST00000607647.5:n.3948T>C
NM_015135.2:c.5670T>C NP_055950.1:p.Leu1890=
XM_005250235.2:c.4596T>C XP_005250292.1:p.Leu1532=
NM_001329434.1:c.4596T>C NP_001316363.1:p.Leu1532=
NM_015135.3:c.5670T>C MANE Select NP_055950.2:p.Leu1890=
NM_001329434.2:c.4596T>C NP_001316363.2:p.Leu1532=