Canonical Allele Identifier: CA16044047

Gene: NOG

Linked Data

• ClinVar Variation Id: 375295
• ClinVar RCV Id: RCV000416327 ; RCV002521489 ; RCV001254352
• dbSNP Id: rs104894610
• MyVariant Identifiers: chr17:g.54672195G>A (hg19) ; chr17:g.56594834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594834G>A , CM000679.2:g.56594834G>A	GRCh38
NC_000017.10:g.54672195G>A , CM000679.1:g.54672195G>A	GRCh37
NC_000017.9:g.52027194G>A	NCBI36
NG_011958.1:g.6136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.611G>A MANE Select	ENSP00000328181.4:p.Arg204Gln
ENST00000332822.4:c.611G>A	ENSP00000328181.4:p.Arg204Gln
NM_005450.4:c.611G>A	NP_005441.1:p.Arg204Gln
NM_005450.6:c.611G>A MANE Select	NP_005441.1:p.Arg204Gln