Canonical Allele Identifier: CA500985394
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2980641
ClinVar RCV Id: RCV003839799
MyVariant Identifiers: chr17:g.54671995A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594634A>C , CM000679.2:g.56594634A>C GRCh38
NC_000017.10:g.54671995A>C , CM000679.1:g.54671995A>C GRCh37
NC_000017.9:g.52026994A>C NCBI36
NG_011958.1:g.5936A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.411A>C MANE Select ENSP00000328181.4:p.Leu137=
ENST00000332822.4:c.411A>C ENSP00000328181.4:p.Leu137=
NM_005450.4:c.411A>C NP_005441.1:p.Leu137=
NM_005450.6:c.411A>C MANE Select NP_005441.1:p.Leu137=