Canonical Allele Identifier: CA7081272
Gene: OSGEP HGNC NCBI

Linked Data

ClinVar Variation Id: 521157
ClinVar RCV Id: RCV000622355 RCV002221565
dbSNP Id: rs140583554
ExAC: 14:20920225 C / T
gnomAD v2: 14-20920225-C-T
gnomAD v3: 14-20452066-C-T
gnomAD v4: 14-20452066-C-T
MyVariant Identifiers: chr14:g.20920225C>T (hg19) chr14:g.20452066C>T (hg38)
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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'