Canonical Allele Identifier: CA457931797
Gene: NUP205 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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