Canonical Allele Identifier: CA7081001

Gene: OSGEP

Linked Data

• ClinVar Variation Id: 444886
• ClinVar RCV Id: RCV000513377 ; RCV002274049
• dbSNP Id: rs753237335
• ExAC: 14:20915433 C / T
• gnomAD v2: 14-20915433-C-T
• gnomAD v3: 14-20447274-C-T
• gnomAD v4: 14-20447274-C-T
• MyVariant Identifiers: chr14:g.20915433C>T (hg19) ; chr14:g.20447274C>T (hg38)
• PubMed: PMID:17897280 ; PMID:28272532 ; PMID:28805828

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20447274C>T , CM000676.2:g.20447274C>T	GRCh38
NC_000014.8:g.20915433C>T , CM000676.1:g.20915433C>T	GRCh37
NC_000014.7:g.19985273C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.974G>A MANE Select	ENSP00000206542.4:p.Arg325Gln
ENST00000206542.8:c.974G>A	ENSP00000206542.4:p.Arg325Gln
ENST00000553292.1:n.321G>A
ENST00000554249.5:n.852G>A
ENST00000555656.5:n.2395G>A
ENST00000556124.3:n.1335G>A
NM_017807.3:c.974G>A	NP_060277.1:p.Arg325Gln
XM_011536930.1:c.917G>A	XP_011535232.1:p.Arg306Gln
XM_011536931.1:c.731G>A	XP_011535233.1:p.Arg244Gln
XM_011536932.1:c.731G>A	XP_011535234.1:p.Arg244Gln
NM_017807.4:c.974G>A MANE Select	NP_060277.1:p.Arg325Gln