Canonical Allele Identifier: CA389124511
Gene: OSGEP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20452053A>G
GRCh37 chr14:g.20920212A>G
Revel Score:
ENST00000206542 (MANE Select) 0.471
ENST00000553640 0.471
ENST00000488532 0.471
gnomAD v2:
14:20920212 A / G
gnomAD v4:
chr14-20452053-A-G
Joint Max Group AF 0.00001144 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
ClinVar RCV:
RCV000513079
RCV001529474
ClinVar Variation:
444891
dbSNP:
1443735811
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20452053A>G , CM000676.2:g.20452053A>G GRCh38
NC_000014.8:g.20920212A>G , CM000676.1:g.20920212A>G GRCh37
NC_000014.7:g.19990052A>G NCBI36
NG_008718.1:g.1923A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.332T>C MANE Select ENSP00000206542.4:p.Ile111Thr
ENST00000206542.8:c.332T>C ENSP00000206542.4:p.Ile111Thr
ENST00000553640.3:c.332T>C ENSP00000451580.1:p.Ile111Thr
ENST00000554699.1:n.442T>C
ENST00000555223.5:c.217T>C
ENST00000556252.1:n.755T>C
ENST00000556439.1:n.917T>C
NM_017807.3:c.332T>C NP_060277.1:p.Ile111Thr
XM_011536930.1:c.275T>C XP_011535232.1:p.Ile92Thr
XM_011536931.1:c.89T>C XP_011535233.1:p.Ile30Thr
XM_011536932.1:c.89T>C XP_011535234.1:p.Ile30Thr
NM_017807.4:c.332T>C MANE Select NP_060277.1:p.Ile111Thr
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