Canonical Allele Identifier: CA292532904
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs892664793
gnomAD v2: 17-54672026-T-C
gnomAD v3: 17-56594665-T-C
gnomAD v4: 17-56594665-T-C
MyVariant Identifiers: chr17:g.54672026T>C (hg19) chr17:g.56594665T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594665T>C , CM000679.2:g.56594665T>C GRCh38
NC_000017.10:g.54672026T>C , CM000679.1:g.54672026T>C GRCh37
NC_000017.9:g.52027025T>C NCBI36
NG_011958.1:g.5967T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.442T>C MANE Select ENSP00000328181.4:p.Trp148Arg
ENST00000332822.4:c.442T>C ENSP00000328181.4:p.Trp148Arg
NM_005450.4:c.442T>C NP_005441.1:p.Trp148Arg
NM_005450.6:c.442T>C MANE Select NP_005441.1:p.Trp148Arg
Search 100 bp 5'
Search 100 bp 3'