Canonical Allele Identifier: CA389116997

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20447645C>A , CM000676.2:g.20447645C>A	GRCh38
NC_000014.8:g.20915804C>A , CM000676.1:g.20915804C>A	GRCh37
NC_000014.7:g.19985644C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.839G>T MANE Select	NP_060277.1:p.Arg280Leu
ENST00000206542.9:c.839G>T MANE Select	ENSP00000206542.4:p.Arg280Leu
NM_017807.3:c.839G>T	NP_060277.1:p.Arg280Leu
ENST00000206542.8:c.839G>T	ENSP00000206542.4:p.Arg280Leu
ENST00000553292.1:n.44G>T
ENST00000554249.5:n.717G>T
ENST00000555223.5:c.759G>T
ENST00000555656.5:n.2260G>T
ENST00000556124.3:n.1200G>T
XM_011536930.1:c.782G>T	XP_011535232.1:p.Arg261Leu
XM_011536931.1:c.596G>T	XP_011535233.1:p.Arg199Leu
XM_011536932.1:c.596G>T	XP_011535234.1:p.Arg199Leu