Canonical Allele Identifier: CA7081333

Gene: OSGEP

Linked Data

• dbSNP Id: rs376529816
• ExAC: 14:20920654 A / T
• gnomAD v2: 14-20920654-A-T
• MyVariant Identifiers: chr14:g.20920654A>T (hg19) ; chr14:g.20920654_20920658delinsTAGGT (hg19) ; chr14:g.20452495A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452495A>T , CM000676.2:g.20452495A>T	GRCh38
NC_000014.8:g.20920654A>T , CM000676.1:g.20920654A>T	GRCh37
NC_000014.7:g.19990494A>T	NCBI36
NG_008718.1:g.2365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.116-47T>A MANE Select	ENSP00000206542.4:n.116-47T>A
ENST00000206542.8:c.116-47T>A	ENSP00000206542.4:n.116-47T>A
ENST00000553640.3:c.116-47T>A	ENSP00000451580.1:n.116-47T>A
ENST00000554699.1:n.226-47T>A
ENST00000556252.1:n.486-47T>A
ENST00000556439.1:n.522-47T>A
NM_017807.3:c.116-47T>A	NP_060277.1:n.116-47T>A
XM_011536930.1:c.59-47T>A	XP_011535232.1:n.59-47T>A
XM_011536931.1:c.-181-47T>A	XP_011535233.1:n.-181-47T>A
XM_011536932.1:c.-181-47T>A	XP_011535234.1:n.-181-47T>A
NM_017807.4:c.116-47T>A MANE Select	NP_060277.1:n.116-47T>A