Canonical Allele Identifier: CA626958028
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs1416414415
gnomAD v2: 17-54672303-C-T
gnomAD v4: 17-56594942-C-T
MyVariant Identifiers: chr17:g.54672303C>T (hg19) chr17:g.56594942C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594942C>T , CM000679.2:g.56594942C>T GRCh38
NC_000017.10:g.54672303C>T , CM000679.1:g.54672303C>T GRCh37
NC_000017.9:g.52027302C>T NCBI36
NG_011958.1:g.6244C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*20C>T MANE Select ENSP00000328181.4:n.*20C>T
ENST00000332822.4:c.*20C>T ENSP00000328181.4:n.*20C>T
NM_005450.4:c.*20C>T NP_005441.1:n.*20C>T
NM_005450.6:c.*20C>T MANE Select NP_005441.1:n.*20C>T
Search 100 bp 5'
Search 100 bp 3'