Canonical Allele Identifier: CA7081271
Gene: OSGEP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20452057A>G
GRCh37 chr14:g.20920216A>G
Revel Score:
ENST00000206542 (MANE Select) 0.740
ENST00000553640 0.740
ENST00000488532 0.740
gnomAD v2:
14:20920216 A / G
gnomAD v3:
14:20452057 A / G
gnomAD v4:
chr14-20452057-A-G
Joint Max Group AF 0.00056394 (NFE)
Genomes Max Group AF 0.00058553 (NFE)
Exomes Max Group AF 0.00055388 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20452057A>G , CM000676.2:g.20452057A>G GRCh38
NC_000014.8:g.20920216A>G , CM000676.1:g.20920216A>G GRCh37
NC_000014.7:g.19990056A>G NCBI36
NG_008718.1:g.1927A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.328T>C MANE Select ENSP00000206542.4:p.Cys110Arg
ENST00000206542.8:c.328T>C ENSP00000206542.4:p.Cys110Arg
ENST00000553640.3:c.328T>C ENSP00000451580.1:p.Cys110Arg
ENST00000554699.1:n.438T>C
ENST00000555223.5:c.213T>C
ENST00000556252.1:n.751T>C
ENST00000556439.1:n.913T>C
NM_017807.3:c.328T>C NP_060277.1:p.Cys110Arg
XM_011536930.1:c.271T>C XP_011535232.1:p.Cys91Arg
XM_011536931.1:c.85T>C XP_011535233.1:p.Cys29Arg
XM_011536932.1:c.85T>C XP_011535234.1:p.Cys29Arg
NM_017807.4:c.328T>C MANE Select NP_060277.1:p.Cys110Arg
Search 100 bp 5'
Search 100 bp 3'