Canonical Allele Identifier: CA8663183
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1501933
ClinVar RCV Id: RCV002010848
dbSNP Id: rs373305050
ExAC: 17:54671892 A / T
gnomAD v2: 17-54671892-A-T
gnomAD v4: 17-56594531-A-T
MyVariant Identifiers: chr17:g.54671892A>T (hg19) chr17:g.56594531A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594531A>T , CM000679.2:g.56594531A>T GRCh38
NC_000017.10:g.54671892A>T , CM000679.1:g.54671892A>T GRCh37
NC_000017.9:g.52026891A>T NCBI36
NG_011958.1:g.5833A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.308A>T MANE Select ENSP00000328181.4:p.Glu103Val
ENST00000332822.4:c.308A>T ENSP00000328181.4:p.Glu103Val
NM_005450.4:c.308A>T NP_005441.1:p.Glu103Val
NM_005450.6:c.308A>T MANE Select NP_005441.1:p.Glu103Val
Search 100 bp 5'
Search 100 bp 3'