Canonical Allele Identifier: CA389127401

Gene: OSGEP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20454604T>A , CM000676.2:g.20454604T>A	GRCh38
NC_000014.8:g.20922763T>A , CM000676.1:g.20922763T>A	GRCh37
NC_000014.7:g.19992603T>A	NCBI36
NG_008718.1:g.4474T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017807.4:c.80A>T MANE Select	NP_060277.1:p.Asn27Ile
ENST00000206542.9:c.80A>T MANE Select	ENSP00000206542.4:p.Asn27Ile
NM_017807.3:c.80A>T	NP_060277.1:p.Asn27Ile
ENST00000206542.8:c.80A>T	ENSP00000206542.4:p.Asn27Ile
ENST00000553640.3:c.80A>T	ENSP00000451580.1:p.Asn27Ile
ENST00000554699.1:n.190A>T
ENST00000556252.1:n.450A>T
ENST00000556439.1:n.486A>T
XM_011536930.1:c.19A>T	XP_011535232.1:p.Thr7Ser
XM_011536931.1:c.-217A>T	XP_011535233.1:n.-217A>T
XM_011536932.1:c.-221A>T	XP_011535234.1:n.-221A>T