Canonical Allele Identifier: CA399966837

Gene: NOG

Linked Data

• gnomAD v4: 17-56594881-A-G
• MyVariant Identifiers: chr17:g.54672242A>G (hg19) ; chr17:g.56594881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594881A>G , CM000679.2:g.56594881A>G	GRCh38
NC_000017.10:g.54672242A>G , CM000679.1:g.54672242A>G	GRCh37
NC_000017.9:g.52027241A>G	NCBI36
NG_011958.1:g.6183A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.658A>G MANE Select	ENSP00000328181.4:p.Ile220Val
ENST00000332822.4:c.658A>G	ENSP00000328181.4:p.Ile220Val
NM_005450.4:c.658A>G	NP_005441.1:p.Ile220Val
NM_005450.6:c.658A>G MANE Select	NP_005441.1:p.Ile220Val