Canonical Allele Identifier: CA292532901
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1353935
ClinVar RCV Id: RCV001873981
dbSNP Id: rs1003152912
gnomAD v3: 17-56594636-G-A
gnomAD v4: 17-56594636-G-A
MyVariant Identifiers: chr17:g.54671997G>A (hg19) chr17:g.56594636G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594636G>A , CM000679.2:g.56594636G>A GRCh38
NC_000017.10:g.54671997G>A , CM000679.1:g.54671997G>A GRCh37
NC_000017.9:g.52026996G>A NCBI36
NG_011958.1:g.5938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.413G>A MANE Select ENSP00000328181.4:p.Ser138Asn
ENST00000332822.4:c.413G>A ENSP00000328181.4:p.Ser138Asn
NM_005450.4:c.413G>A NP_005441.1:p.Ser138Asn
NM_005450.6:c.413G>A MANE Select NP_005441.1:p.Ser138Asn
Search 100 bp 5'
Search 100 bp 3'