Canonical Allele Identifier: CA292532916

Gene: NOG

Linked Data

• dbSNP Id: rs987284231
• gnomAD v2: 17-54672345-C-T
• gnomAD v3: 17-56594984-C-T
• gnomAD v4: 17-56594984-C-T
• MyVariant Identifiers: chr17:g.54672345C>T (hg19) ; chr17:g.56594984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56594984C>T , CM000679.2:g.56594984C>T	GRCh38
NC_000017.10:g.54672345C>T , CM000679.1:g.54672345C>T	GRCh37
NC_000017.9:g.52027344C>T	NCBI36
NG_011958.1:g.6286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332822.6:c.*62C>T MANE Select	ENSP00000328181.4:n.*62C>T
ENST00000332822.4:c.*62C>T	ENSP00000328181.4:n.*62C>T
NM_005450.4:c.*62C>T	NP_005441.1:n.*62C>T
NM_005450.6:c.*62C>T MANE Select	NP_005441.1:n.*62C>T