Canonical Allele Identifier: CA389119085
Community Standard Title: NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr)
Gene: OSGEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20448113G>T , CM000676.2:g.20448113G>T GRCh38
NC_000014.8:g.20916272G>T , CM000676.1:g.20916272G>T GRCh37
NC_000014.7:g.19986112G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017807.4:c.695C>A MANE Select NP_060277.1:p.Ser232Tyr
ENST00000206542.9:c.695C>A MANE Select ENSP00000206542.4:p.Ser232Tyr
NM_017807.3:c.695C>A NP_060277.1:p.Ser232Tyr
ENST00000206542.8:c.695C>A ENSP00000206542.4:p.Ser232Tyr
ENST00000554249.5:n.573C>A
ENST00000554915.1:n.497C>A
ENST00000555223.5:c.615C>A
ENST00000555656.5:n.2116C>A
ENST00000555785.2:n.353C>A
ENST00000556124.3:n.732C>A
XM_011536930.1:c.638C>A XP_011535232.1:p.Ser213Tyr
XM_011536931.1:c.452C>A XP_011535233.1:p.Ser151Tyr
XM_011536932.1:c.452C>A XP_011535234.1:p.Ser151Tyr