Canonical Allele Identifier: CA704066431

Gene: OSGEP

Linked Data

• dbSNP Id: rs916931000
• gnomAD v4: 14-20454806-T-C
• MyVariant Identifiers: chr14:g.20922965T>C (hg19) ; chr14:g.20454806T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20454806T>C , CM000676.2:g.20454806T>C	GRCh38
NC_000014.8:g.20922965T>C , CM000676.1:g.20922965T>C	GRCh37
NC_000014.7:g.19992805T>C	NCBI36
NG_008718.1:g.4676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.-123A>G MANE Select	ENSP00000206542.4:n.-123A>G
ENST00000206542.8:c.-123A>G	ENSP00000206542.4:n.-123A>G
ENST00000553640.3:c.-123A>G	ENSP00000451580.1:n.-123A>G
ENST00000556252.1:n.248A>G
ENST00000556439.1:n.284A>G
NM_017807.3:c.-123A>G	NP_060277.1:n.-123A>G
XM_011536930.1:c.-184A>G	XP_011535232.1:n.-184A>G
XM_011536931.1:c.-419A>G	XP_011535233.1:n.-419A>G
XM_011536932.1:c.-423A>G	XP_011535234.1:n.-423A>G
NM_017807.4:c.-123A>G MANE Select	NP_060277.1:n.-123A>G