Canonical Allele Identifier: CA118427
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 6693
ClinVar RCV Id: RCV000007081
dbSNP Id: rs104894603

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594872T>G , CM000679.2:g.56594872T>G GRCh38
NC_000017.10:g.54672233T>G , CM000679.1:g.54672233T>G GRCh37
NC_000017.9:g.52027232T>G NCBI36
NG_011958.1:g.6174T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.649T>G MANE Select ENSP00000328181.4:p.Trp217Gly
ENST00000332822.4:c.649T>G ENSP00000328181.4:p.Trp217Gly
NM_005450.4:c.649T>G NP_005441.1:p.Trp217Gly
NM_005450.6:c.649T>G MANE Select NP_005441.1:p.Trp217Gly