Canonical Allele Identifier: CA8663240

Gene: NOG

Linked Data

• dbSNP Id: rs747997574
• ExAC: 17:54672331 C / G
• gnomAD v2: 17-54672331-C-G
• gnomAD v4: 17-56594970-C-G
• MyVariant Identifiers: chr17:g.54672331C>G (hg19) ; chr17:g.56594970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594970C>G , CM000679.2:g.56594970C>G	GRCh38
NC_000017.10:g.54672331C>G , CM000679.1:g.54672331C>G	GRCh37
NC_000017.9:g.52027330C>G	NCBI36
NG_011958.1:g.6272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.*48C>G MANE Select	ENSP00000328181.4:n.*48C>G
ENST00000332822.4:c.*48C>G	ENSP00000328181.4:n.*48C>G
NM_005450.4:c.*48C>G	NP_005441.1:n.*48C>G
NM_005450.6:c.*48C>G MANE Select	NP_005441.1:n.*48C>G