Canonical Allele Identifier: CA7081272
Gene: OSGEP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20452066C>T
GRCh37 chr14:g.20920225C>T
Revel Score:
ENST00000206542 (MANE Select) 0.627
ENST00000553640 0.627
ENST00000488532 0.627
gnomAD v2:
14:20920225 C / T
gnomAD v3:
14:20452066 C / T
gnomAD v4:
chr14-20452066-C-T
Joint Max Group AF 0.00009057 (NFE)
Genomes Max Group AF 0.00007907 (NFE)
Exomes Max Group AF 0.00008763 (NFE)
ClinVar RCV:
RCV000622355
RCV002221565
ClinVar Variation:
521157
dbSNP:
140583554
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20452066C>T , CM000676.2:g.20452066C>T GRCh38
NC_000014.8:g.20920225C>T , CM000676.1:g.20920225C>T GRCh37
NC_000014.7:g.19990065C>T NCBI36
NG_008718.1:g.1936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.319G>A MANE Select ENSP00000206542.4:p.Val107Met
ENST00000206542.8:c.319G>A ENSP00000206542.4:p.Val107Met
ENST00000553640.3:c.319G>A ENSP00000451580.1:p.Val107Met
ENST00000554699.1:n.429G>A
ENST00000555223.5:c.204G>A
ENST00000556252.1:n.742G>A
ENST00000556439.1:n.904G>A
NM_017807.3:c.319G>A NP_060277.1:p.Val107Met
XM_011536930.1:c.262G>A XP_011535232.1:p.Val88Met
XM_011536931.1:c.76G>A XP_011535233.1:p.Val26Met
XM_011536932.1:c.76G>A XP_011535234.1:p.Val26Met
NM_017807.4:c.319G>A MANE Select NP_060277.1:p.Val107Met
Search 100 bp 5'
Search 100 bp 3'