Canonical Allele Identifier: CA292532903
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1582233
ClinVar RCV Id: RCV002111137
dbSNP Id: rs1054746726
gnomAD v2: 17-54672010-G-A
gnomAD v4: 17-56594649-G-A
MyVariant Identifiers: chr17:g.54672010G>A (hg19) chr17:g.56594649G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594649G>A , CM000679.2:g.56594649G>A GRCh38
NC_000017.10:g.54672010G>A , CM000679.1:g.54672010G>A GRCh37
NC_000017.9:g.52027009G>A NCBI36
NG_011958.1:g.5951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.426G>A MANE Select ENSP00000328181.4:p.Arg142=
ENST00000332822.4:c.426G>A ENSP00000328181.4:p.Arg142=
NM_005450.4:c.426G>A NP_005441.1:p.Arg142=
NM_005450.6:c.426G>A MANE Select NP_005441.1:p.Arg142=
Search 100 bp 5'
Search 100 bp 3'