Canonical Allele Identifier: CA399966652
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 2058189
ClinVar RCV Id: RCV002915054
MyVariant Identifiers: chr17:g.54672167T>C (hg19) chr17:g.56594806T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594806T>C , CM000679.2:g.56594806T>C GRCh38
NC_000017.10:g.54672167T>C , CM000679.1:g.54672167T>C GRCh37
NC_000017.9:g.52027166T>C NCBI36
NG_011958.1:g.6108T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.583T>C MANE Select ENSP00000328181.4:p.Ser195Pro
ENST00000332822.4:c.583T>C ENSP00000328181.4:p.Ser195Pro
NM_005450.4:c.583T>C NP_005441.1:p.Ser195Pro
NM_005450.6:c.583T>C MANE Select NP_005441.1:p.Ser195Pro
Search 100 bp 5'
Search 100 bp 3'