Canonical Allele Identifier: CA118428
Gene: NOG HGNC NCBI

Linked Data

ClinVar Variation Id: 6694
ClinVar RCV Id: RCV000007082
dbSNP Id: rs104894608

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594891C>T , CM000679.2:g.56594891C>T GRCh38
NC_000017.10:g.54672252C>T , CM000679.1:g.54672252C>T GRCh37
NC_000017.9:g.52027251C>T NCBI36
NG_011958.1:g.6193C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.668C>T MANE Select ENSP00000328181.4:p.Pro223Leu
ENST00000332822.4:c.668C>T ENSP00000328181.4:p.Pro223Leu
NM_005450.4:c.668C>T NP_005441.1:p.Pro223Leu
NM_005450.6:c.668C>T MANE Select NP_005441.1:p.Pro223Leu