Canonical Allele Identifier: CA7081271

Gene: OSGEP

Linked Data

• ClinVar Variation Id: 444887
• ClinVar RCV Id: RCV000512715 ; RCV001551771 ; RCV002252146
• dbSNP Id: rs140076803
• ExAC: 14:20920216 A / G
• gnomAD v2: 14-20920216-A-G
• gnomAD v3: 14-20452057-A-G
• gnomAD v4: 14-20452057-A-G
• MyVariant Identifiers: chr14:g.20920216A>G (hg19) ; chr14:g.20452057A>G (hg38)
• PubMed: PMID:28805828

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