Canonical Allele Identifier: CA2575472106

Gene: OSGEP

Linked Data

• gnomAD v4: 14-20452548-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452548G>T , CM000676.2:g.20452548G>T	GRCh38
NC_000014.8:g.20920707G>T , CM000676.1:g.20920707G>T	GRCh37
NC_000014.7:g.19990547G>T	NCBI36
NG_008718.1:g.2418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.116-100C>A MANE Select	ENSP00000206542.4:n.116-100C>A
ENST00000206542.8:c.116-100C>A	ENSP00000206542.4:n.116-100C>A
ENST00000553640.3:c.116-100C>A	ENSP00000451580.1:n.116-100C>A
ENST00000554699.1:n.226-100C>A
ENST00000556252.1:n.486-100C>A
ENST00000556439.1:n.522-100C>A
NM_017807.3:c.116-100C>A	NP_060277.1:n.116-100C>A
XM_011536930.1:c.59-100C>A	XP_011535232.1:n.59-100C>A
XM_011536931.1:c.-181-100C>A	XP_011535233.1:n.-181-100C>A
XM_011536932.1:c.-181-100C>A	XP_011535234.1:n.-181-100C>A
NM_017807.4:c.116-100C>A MANE Select	NP_060277.1:n.116-100C>A