Canonical Allele Identifier: CA8663204
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs754029476
ExAC: 17:54672005 C / T
gnomAD v2: 17-54672005-C-T
gnomAD v4: 17-56594644-C-T
MyVariant Identifiers: chr17:g.54672005C>T (hg19) chr17:g.56594644C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.421C>T MANE Select ENSP00000328181.4:p.Leu141=
ENST00000332822.4:c.421C>T ENSP00000328181.4:p.Leu141=
NM_005450.4:c.421C>T NP_005441.1:p.Leu141=
NM_005450.6:c.421C>T MANE Select NP_005441.1:p.Leu141=
Search 100 bp 5'
Search 100 bp 3'