Canonical Allele Identifier: CA389125804

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452446A>G , CM000676.2:g.20452446A>G	GRCh38
NC_000014.8:g.20920605A>G , CM000676.1:g.20920605A>G	GRCh37
NC_000014.7:g.19990445A>G	NCBI36
NG_008718.1:g.2316A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.118T>C MANE Select	NP_060277.1:p.Phe40Leu
ENST00000206542.9:c.118T>C MANE Select	ENSP00000206542.4:p.Phe40Leu
NM_017807.3:c.118T>C	NP_060277.1:p.Phe40Leu
ENST00000206542.8:c.118T>C	ENSP00000206542.4:p.Phe40Leu
ENST00000553640.3:c.118T>C	ENSP00000451580.1:p.Phe40Leu
ENST00000554699.1:n.228T>C
ENST00000555223.5:c.3T>C
ENST00000556252.1:n.488T>C
ENST00000556439.1:n.524T>C
XM_011536930.1:c.61T>C	XP_011535232.1:p.Phe21Leu
XM_011536931.1:c.-179T>C	XP_011535233.1:n.-179T>C
XM_011536932.1:c.-179T>C	XP_011535234.1:n.-179T>C