Canonical Allele Identifier: CA399966459
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 928606
ClinVar RCV Id: RCV001192755
dbSNP Id: rs2052471344
MyVariant Identifiers: chr17:g.54672093C>G (hg19) chr17:g.56594732C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594732C>G , CM000679.2:g.56594732C>G GRCh38
NC_000017.10:g.54672093C>G , CM000679.1:g.54672093C>G GRCh37
NC_000017.9:g.52027092C>G NCBI36
NG_011958.1:g.6034C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.509C>G MANE Select ENSP00000328181.4:p.Pro170Arg
ENST00000332822.4:c.509C>G ENSP00000328181.4:p.Pro170Arg
NM_005450.4:c.509C>G NP_005441.1:p.Pro170Arg
NM_005450.6:c.509C>G MANE Select NP_005441.1:p.Pro170Arg
Search 100 bp 5'
Search 100 bp 3'