Canonical Allele Identifier: CA389127398
Community Standard Title: NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys)
Gene: OSGEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454603G>C , CM000676.2:g.20454603G>C GRCh38
NC_000014.8:g.20922762G>C , CM000676.1:g.20922762G>C GRCh37
NC_000014.7:g.19992602G>C NCBI36
NG_008718.1:g.4473G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017807.4:c.81C>G MANE Select NP_060277.1:p.Asn27Lys
ENST00000206542.9:c.81C>G MANE Select ENSP00000206542.4:p.Asn27Lys
NM_017807.3:c.81C>G NP_060277.1:p.Asn27Lys
ENST00000206542.8:c.81C>G ENSP00000206542.4:p.Asn27Lys
ENST00000553640.3:c.81C>G ENSP00000451580.1:p.Asn27Lys
ENST00000554699.1:n.191C>G
ENST00000556252.1:n.451C>G
ENST00000556439.1:n.487C>G
XM_011536930.1:c.20C>G XP_011535232.1:p.Thr7Ser
XM_011536931.1:c.-216C>G XP_011535233.1:n.-216C>G
XM_011536932.1:c.-220C>G XP_011535234.1:n.-220C>G