Canonical Allele Identifier: CA8663197
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs770461784
ExAC: 17:54671965 G / A
gnomAD v4: 17-56594604-G-A
MyVariant Identifiers: chr17:g.54671965G>A (hg19) chr17:g.56594604G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594604G>A , CM000679.2:g.56594604G>A GRCh38
NC_000017.10:g.54671965G>A , CM000679.1:g.54671965G>A GRCh37
NC_000017.9:g.52026964G>A NCBI36
NG_011958.1:g.5906G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.381G>A MANE Select ENSP00000328181.4:p.Glu127=
ENST00000332822.4:c.381G>A ENSP00000328181.4:p.Glu127=
NM_005450.4:c.381G>A NP_005441.1:p.Glu127=
NM_005450.6:c.381G>A MANE Select NP_005441.1:p.Glu127=
Search 100 bp 5'
Search 100 bp 3'