Canonical Allele Identifier: CA118433
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 6700
ClinVar RCV Id: RCV000007090
dbSNP Id: rs104894613

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594609T>A , CM000679.2:g.56594609T>A GRCh38
NC_000017.10:g.54671970T>A , CM000679.1:g.54671970T>A GRCh37
NC_000017.9:g.52026969T>A NCBI36
NG_011958.1:g.5911T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.386T>A MANE Select ENSP00000328181.4:p.Leu129Ter
ENST00000332822.4:c.386T>A ENSP00000328181.4:p.Leu129Ter
NM_005450.4:c.386T>A NP_005441.1:p.Leu129Ter
NM_005450.6:c.386T>A MANE Select NP_005441.1:p.Leu129Ter