Canonical Allele Identifier: CA7081069

Gene: OSGEP

Linked Data

• ClinVar Variation Id: 444892
• ClinVar RCV Id: RCV000513428 ; RCV001266640 ; RCV002524975
• dbSNP Id: rs374322839
• ExAC: 14:20915805 G / A
• gnomAD v2: 14-20915805-G-A
• gnomAD v3: 14-20447646-G-A
• gnomAD v4: 14-20447646-G-A
• MyVariant Identifiers: chr14:g.20915805G>A (hg19) ; chr14:g.20447646G>A (hg38)
• PubMed: PMID:28805828

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20447646G>A , CM000676.2:g.20447646G>A	GRCh38
NC_000014.8:g.20915805G>A , CM000676.1:g.20915805G>A	GRCh37
NC_000014.7:g.19985645G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.838C>T MANE Select	ENSP00000206542.4:p.Arg280Cys
ENST00000206542.8:c.838C>T	ENSP00000206542.4:p.Arg280Cys
ENST00000553292.1:n.43C>T
ENST00000554249.5:n.716C>T
ENST00000555223.5:c.758C>T
ENST00000555656.5:n.2259C>T
ENST00000556124.3:n.1199C>T
NM_017807.3:c.838C>T	NP_060277.1:p.Arg280Cys
XM_011536930.1:c.781C>T	XP_011535232.1:p.Arg261Cys
XM_011536931.1:c.595C>T	XP_011535233.1:p.Arg199Cys
XM_011536932.1:c.595C>T	XP_011535234.1:p.Arg199Cys
NM_017807.4:c.838C>T MANE Select	NP_060277.1:p.Arg280Cys