Canonical Allele Identifier: CA389127659

Gene: OSGEP

Linked Data

• ClinVar Variation Id: 444889
• ClinVar RCV Id: RCV000513299 ; RCV001268300 ; RCV001849392
• dbSNP Id: rs1555331969
• MyVariant Identifiers: chr14:g.20922803T>A (hg19) ; chr14:g.20454644T>A (hg38)
• PubMed: PMID:28805828

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20454644T>A , CM000676.2:g.20454644T>A	GRCh38
NC_000014.8:g.20922803T>A , CM000676.1:g.20922803T>A	GRCh37
NC_000014.7:g.19992643T>A	NCBI36
NG_008718.1:g.4514T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.40A>T MANE Select	ENSP00000206542.4:p.Ile14Phe
ENST00000206542.8:c.40A>T	ENSP00000206542.4:p.Ile14Phe
ENST00000553640.3:c.40A>T	ENSP00000451580.1:p.Ile14Phe
ENST00000554699.1:n.150A>T
ENST00000556252.1:n.410A>T
ENST00000556439.1:n.446A>T
NM_017807.3:c.40A>T	NP_060277.1:p.Ile14Phe
XM_011536930.1:c.-22A>T	XP_011535232.1:n.-22A>T
XM_011536931.1:c.-257A>T	XP_011535233.1:n.-257A>T
XM_011536932.1:c.-261A>T	XP_011535234.1:n.-261A>T
NM_017807.4:c.40A>T MANE Select	NP_060277.1:p.Ile14Phe