Canonical Allele Identifier: CA626958058
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs1193988755
gnomAD v2: 17-54672498-C-T
gnomAD v3: 17-56595137-C-T
gnomAD v4: 17-56595137-C-T
MyVariant Identifiers: chr17:g.54672498C>T (hg19) chr17:g.56595137C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56595137C>T , CM000679.2:g.56595137C>T GRCh38
NC_000017.10:g.54672498C>T , CM000679.1:g.54672498C>T GRCh37
NC_000017.9:g.52027497C>T NCBI36
NG_011958.1:g.6439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*215C>T MANE Select ENSP00000328181.4:n.*215C>T
ENST00000332822.4:c.*215C>T ENSP00000328181.4:n.*215C>T
NM_005450.4:c.*215C>T NP_005441.1:n.*215C>T
NM_005450.6:c.*215C>T MANE Select NP_005441.1:n.*215C>T
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Search 100 bp 3'