Canonical Allele Identifier: CA389120500

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20448809C>A , CM000676.2:g.20448809C>A	GRCh38
NC_000014.8:g.20916968C>A , CM000676.1:g.20916968C>A	GRCh37
NC_000014.7:g.19986808C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.560G>T MANE Select	NP_060277.1:p.Gly187Val
ENST00000206542.9:c.560G>T MANE Select	ENSP00000206542.4:p.Gly187Val
NM_017807.3:c.560G>T	NP_060277.1:p.Gly187Val
ENST00000206542.8:c.560G>T	ENSP00000206542.4:p.Gly187Val
ENST00000554249.5:n.438G>T
ENST00000554915.1:n.362G>T
ENST00000555223.5:c.480G>T
ENST00000555656.5:n.1981G>T
ENST00000555785.2:n.218G>T
ENST00000556124.3:n.597G>T
XM_011536930.1:c.503G>T	XP_011535232.1:p.Gly168Val
XM_011536931.1:c.317G>T	XP_011535233.1:p.Gly106Val
XM_011536932.1:c.317G>T	XP_011535234.1:p.Gly106Val