Canonical Allele Identifier: CA389125777

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452444G>T , CM000676.2:g.20452444G>T	GRCh38
NC_000014.8:g.20920603G>T , CM000676.1:g.20920603G>T	GRCh37
NC_000014.7:g.19990443G>T	NCBI36
NG_008718.1:g.2314G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.120C>A MANE Select	NP_060277.1:p.Phe40Leu
ENST00000206542.9:c.120C>A MANE Select	ENSP00000206542.4:p.Phe40Leu
NM_017807.3:c.120C>A	NP_060277.1:p.Phe40Leu
ENST00000206542.8:c.120C>A	ENSP00000206542.4:p.Phe40Leu
ENST00000553640.3:c.120C>A	ENSP00000451580.1:p.Phe40Leu
ENST00000554699.1:n.230C>A
ENST00000555223.5:c.5C>A
ENST00000556252.1:n.490C>A
ENST00000556439.1:n.526C>A
XM_011536930.1:c.63C>A	XP_011535232.1:p.Phe21Leu
XM_011536931.1:c.-177C>A	XP_011535233.1:n.-177C>A
XM_011536932.1:c.-177C>A	XP_011535234.1:n.-177C>A