Canonical Allele Identifier: CA389124302

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452020C>A , CM000676.2:g.20452020C>A	GRCh38
NC_000014.8:g.20920179C>A , CM000676.1:g.20920179C>A	GRCh37
NC_000014.7:g.19990019C>A	NCBI36
NG_008718.1:g.1890C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.365G>T MANE Select	NP_060277.1:p.Gly122Val
ENST00000206542.9:c.365G>T MANE Select	ENSP00000206542.4:p.Gly122Val
NM_017807.3:c.365G>T	NP_060277.1:p.Gly122Val
ENST00000206542.8:c.365G>T	ENSP00000206542.4:p.Gly122Val
ENST00000553640.3:c.365G>T	ENSP00000451580.1:p.Gly122Val
ENST00000554699.1:n.475G>T
ENST00000555223.5:c.250G>T
ENST00000556252.1:n.788G>T
ENST00000556439.1:n.950G>T
XM_011536930.1:c.308G>T	XP_011535232.1:p.Gly103Val
XM_011536931.1:c.122G>T	XP_011535233.1:p.Gly41Val
XM_011536932.1:c.122G>T	XP_011535234.1:p.Gly41Val