Canonical Allele Identifier: CA292532939
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs139325910
gnomAD v2: 17-54672489-G-A
gnomAD v3: 17-56595128-G-A
gnomAD v4: 17-56595128-G-A
MyVariant Identifiers: chr17:g.54672489G>A (hg19) chr17:g.56595128G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56595128G>A , CM000679.2:g.56595128G>A GRCh38
NC_000017.10:g.54672489G>A , CM000679.1:g.54672489G>A GRCh37
NC_000017.9:g.52027488G>A NCBI36
NG_011958.1:g.6430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.*206G>A MANE Select ENSP00000328181.4:n.*206G>A
ENST00000332822.4:c.*206G>A ENSP00000328181.4:n.*206G>A
NM_005450.4:c.*206G>A NP_005441.1:n.*206G>A
NM_005450.6:c.*206G>A MANE Select NP_005441.1:n.*206G>A
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