Canonical Allele Identifier: CA7081322

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452407T>A , CM000676.2:g.20452407T>A	GRCh38
NC_000014.8:g.20920566T>A , CM000676.1:g.20920566T>A	GRCh37
NC_000014.7:g.19990406T>A	NCBI36
NG_008718.1:g.2277T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.157A>T MANE Select	NP_060277.1:p.Ile53Phe
ENST00000206542.9:c.157A>T MANE Select	ENSP00000206542.4:p.Ile53Phe
NM_017807.3:c.157A>T	NP_060277.1:p.Ile53Phe
ENST00000206542.8:c.157A>T	ENSP00000206542.4:p.Ile53Phe
ENST00000553640.3:c.157A>T	ENSP00000451580.1:p.Ile53Phe
ENST00000554699.1:n.267A>T
ENST00000555223.5:c.42A>T
ENST00000556252.1:n.527A>T
ENST00000556439.1:n.563A>T
XM_011536930.1:c.100A>T	XP_011535232.1:p.Ile34Phe
XM_011536931.1:c.-140A>T	XP_011535233.1:n.-140A>T
XM_011536932.1:c.-140A>T	XP_011535234.1:n.-140A>T