Canonical Allele Identifier: CA292532905
Gene: NOG HGNC NCBI

Linked Data

dbSNP Id: rs894878126
gnomAD v4: 17-56594707-A-C
MyVariant Identifiers: chr17:g.54672068A>C (hg19) chr17:g.56594707A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56594707A>C , CM000679.2:g.56594707A>C GRCh38
NC_000017.10:g.54672068A>C , CM000679.1:g.54672068A>C GRCh37
NC_000017.9:g.52027067A>C NCBI36
NG_011958.1:g.6009A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332822.6:c.484A>C MANE Select ENSP00000328181.4:p.Asn162His
ENST00000332822.4:c.484A>C ENSP00000328181.4:p.Asn162His
NM_005450.4:c.484A>C NP_005441.1:p.Asn162His
NM_005450.6:c.484A>C MANE Select NP_005441.1:p.Asn162His
Search 100 bp 5'
Search 100 bp 3'