Canonical Allele Identifier: CA7081067
Gene: OSGEP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20447645C>T
GRCh37 chr14:g.20915804C>T
Revel Score:
ENST00000555656 0.369
ENST00000206542 (MANE Select) 0.369
ENST00000554249 0.369
ENST00000555223 0.369
gnomAD v2:
14:20915804 C / T
gnomAD v3:
14:20447645 C / T
gnomAD v4:
chr14-20447645-C-T
Joint Max Group AF 0.00002549 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar RCV:
RCV000512749
ClinVar Variation:
444890
dbSNP:
144732839
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20447645C>T , CM000676.2:g.20447645C>T GRCh38
NC_000014.8:g.20915804C>T , CM000676.1:g.20915804C>T GRCh37
NC_000014.7:g.19985644C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.839G>A MANE Select ENSP00000206542.4:p.Arg280His
ENST00000206542.8:c.839G>A ENSP00000206542.4:p.Arg280His
ENST00000553292.1:n.44G>A
ENST00000554249.5:n.717G>A
ENST00000555223.5:c.759G>A
ENST00000555656.5:n.2260G>A
ENST00000556124.3:n.1200G>A
NM_017807.3:c.839G>A NP_060277.1:p.Arg280His
XM_011536930.1:c.782G>A XP_011535232.1:p.Arg261His
XM_011536931.1:c.596G>A XP_011535233.1:p.Arg199His
XM_011536932.1:c.596G>A XP_011535234.1:p.Arg199His
NM_017807.4:c.839G>A MANE Select NP_060277.1:p.Arg280His
Search 100 bp 5'
Search 100 bp 3'