Canonical Allele Identifier: CA118431

Gene: NOG

Linked Data

• ClinVar Variation Id: 6697
• ClinVar RCV Id: RCV000007085 ; RCV000049267 ; RCV002512863
• dbSNP Id: rs104894611
• MyVariant Identifiers: chr17:g.54671688C>G (hg19) ; chr17:g.56594327C>G (hg38)
• PubMed: PMID:10080184 ; PMID:11545688

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594327C>G , CM000679.2:g.56594327C>G	GRCh38
NC_000017.10:g.54671688C>G , CM000679.1:g.54671688C>G	GRCh37
NC_000017.9:g.52026687C>G	NCBI36
NG_011958.1:g.5629C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000332822.6:c.104C>G MANE Select	ENSP00000328181.4:p.Pro35Arg
ENST00000332822.4:c.104C>G	ENSP00000328181.4:p.Pro35Arg
NM_005450.4:c.104C>G	NP_005441.1:p.Pro35Arg
NM_005450.6:c.104C>G MANE Select	NP_005441.1:p.Pro35Arg