Canonical Allele Identifier: CA960844064

Gene: OSGEP

Linked Data

• dbSNP Id: rs1881129208
• gnomAD v3: 14-20452503-T-C
• gnomAD v4: 14-20452503-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452503T>C , CM000676.2:g.20452503T>C	GRCh38
NC_000014.8:g.20920662T>C , CM000676.1:g.20920662T>C	GRCh37
NC_000014.7:g.19990502T>C	NCBI36
NG_008718.1:g.2373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.116-55A>G MANE Select	ENSP00000206542.4:n.116-55A>G
ENST00000206542.8:c.116-55A>G	ENSP00000206542.4:n.116-55A>G
ENST00000553640.3:c.116-55A>G	ENSP00000451580.1:n.116-55A>G
ENST00000554699.1:n.226-55A>G
ENST00000556252.1:n.486-55A>G
ENST00000556439.1:n.522-55A>G
NM_017807.3:c.116-55A>G	NP_060277.1:n.116-55A>G
XM_011536930.1:c.59-55A>G	XP_011535232.1:n.59-55A>G
XM_011536931.1:c.-181-55A>G	XP_011535233.1:n.-181-55A>G
XM_011536932.1:c.-181-55A>G	XP_011535234.1:n.-181-55A>G
NM_017807.4:c.116-55A>G MANE Select	NP_060277.1:n.116-55A>G