Canonical Allele Identifier: CA399965963
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2710016
ClinVar RCV Id: RCV003550234
dbSNP Id: rs1328705140
gnomAD v4: 17-56594602-G-A
MyVariant Identifiers: chr17:g.54671963G>A (hg19) chr17:g.56594602G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594602G>A , CM000679.2:g.56594602G>A GRCh38
NC_000017.10:g.54671963G>A , CM000679.1:g.54671963G>A GRCh37
NC_000017.9:g.52026962G>A NCBI36
NG_011958.1:g.5904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.379G>A MANE Select ENSP00000328181.4:p.Glu127Lys
ENST00000332822.4:c.379G>A ENSP00000328181.4:p.Glu127Lys
NM_005450.4:c.379G>A NP_005441.1:p.Glu127Lys
NM_005450.6:c.379G>A MANE Select NP_005441.1:p.Glu127Lys
Search 100 bp 5'
Search 100 bp 3'