Canonical Allele Identifier: CA292532927
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs913309637
gnomAD v2: 17-54672418-T-C
gnomAD v3: 17-56595057-T-C
gnomAD v4: 17-56595057-T-C
MyVariant Identifiers: chr17:g.54672418T>C (hg19) chr17:g.54672418_54672419delinsCC (hg19) chr17:g.56595057T>C (hg38) chr17:g.56595057_56595058delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56595057T>C , CM000679.2:g.56595057T>C GRCh38
NC_000017.10:g.54672418T>C , CM000679.1:g.54672418T>C GRCh37
NC_000017.9:g.52027417T>C NCBI36
NG_011958.1:g.6359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*135T>C MANE Select ENSP00000328181.4:n.*135T>C
ENST00000332822.4:c.*135T>C ENSP00000328181.4:n.*135T>C
NM_005450.4:c.*135T>C NP_005441.1:n.*135T>C
NM_005450.6:c.*135T>C MANE Select NP_005441.1:n.*135T>C
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