Canonical Allele Identifier: CA7081069
Gene: OSGEP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20447646G>A
GRCh37 chr14:g.20915805G>A
Revel Score:
ENST00000555656 0.454
ENST00000206542 (MANE Select) 0.454
ENST00000554249 0.454
ENST00000555223 0.454
gnomAD v2:
14:20915805 G / A
gnomAD v3:
14:20447646 G / A
gnomAD v4:
chr14-20447646-G-A
Joint Max Group AF 0.00004782 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00004612 (NFE)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'