Canonical Allele Identifier: CA7081179

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20448965G>A , CM000676.2:g.20448965G>A	GRCh38
NC_000014.8:g.20917124G>A , CM000676.1:g.20917124G>A	GRCh37
NC_000014.7:g.19986964G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.556C>T MANE Select	NP_060277.1:p.Arg186Ter
ENST00000206542.9:c.556C>T MANE Select	ENSP00000206542.4:p.Arg186Ter
NM_017807.3:c.556C>T	NP_060277.1:p.Arg186Ter
ENST00000206542.8:c.556C>T	ENSP00000206542.4:p.Arg186Ter
ENST00000554249.5:n.434C>T
ENST00000554915.1:n.206C>T
ENST00000555223.5:c.476C>T
ENST00000555656.5:n.1915C>T
ENST00000555785.2:n.152C>T
ENST00000556124.3:n.593C>T
XM_011536930.1:c.499C>T	XP_011535232.1:p.Arg167Ter
XM_011536931.1:c.313C>T	XP_011535233.1:p.Arg105Ter
XM_011536932.1:c.313C>T	XP_011535234.1:p.Arg105Ter