Canonical Allele Identifier: CA500985610
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2893795
ClinVar RCV Id: RCV003732988
MyVariant Identifiers: chr17:g.54672139C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594778C>G , CM000679.2:g.56594778C>G GRCh38
NC_000017.10:g.54672139C>G , CM000679.1:g.54672139C>G GRCh37
NC_000017.9:g.52027138C>G NCBI36
NG_011958.1:g.6080C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.555C>G MANE Select ENSP00000328181.4:p.Ser185=
ENST00000332822.4:c.555C>G ENSP00000328181.4:p.Ser185=
NM_005450.4:c.555C>G NP_005441.1:p.Ser185=
NM_005450.6:c.555C>G MANE Select NP_005441.1:p.Ser185=