Canonical Allele Identifier: CA399966080
Gene: NOG HGNC NCBI

Linked Data

gnomAD v4: 17-56594644-C-G
MyVariant Identifiers: chr17:g.54672005C>G (hg19) chr17:g.56594644C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594644C>G , CM000679.2:g.56594644C>G GRCh38
NC_000017.10:g.54672005C>G , CM000679.1:g.54672005C>G GRCh37
NC_000017.9:g.52027004C>G NCBI36
NG_011958.1:g.5946C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000332822.6:c.421C>G MANE Select ENSP00000328181.4:p.Leu141Val
ENST00000332822.4:c.421C>G ENSP00000328181.4:p.Leu141Val
NM_005450.4:c.421C>G NP_005441.1:p.Leu141Val
NM_005450.6:c.421C>G MANE Select NP_005441.1:p.Leu141Val
Search 100 bp 5'
Search 100 bp 3'