Canonical Allele Identifier: CA118425

Gene: NOG

Linked Data

• ClinVar Variation Id: 6691
• ClinVar RCV Id: RCV000007079 ; RCV000007087 ; RCV002247256
• dbSNP Id: rs104894602
• MyVariant Identifiers: chr17:g.54672249A>G (hg19) ; chr17:g.56594888A>G (hg38)
• PubMed: PMID:7557985 ; PMID:10080184 ; PMID:11545688 ; PMID:17245852

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594888A>G , CM000679.2:g.56594888A>G	GRCh38
NC_000017.10:g.54672249A>G , CM000679.1:g.54672249A>G	GRCh37
NC_000017.9:g.52027248A>G	NCBI36
NG_011958.1:g.6190A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.665A>G MANE Select	ENSP00000328181.4:p.Tyr222Cys
ENST00000332822.4:c.665A>G	ENSP00000328181.4:p.Tyr222Cys
NM_005450.4:c.665A>G	NP_005441.1:p.Tyr222Cys
NM_005450.6:c.665A>G MANE Select	NP_005441.1:p.Tyr222Cys