Canonical Allele Identifier: CA2624005968

Gene: OSGEP

Linked Data

• gnomAD v4: 14-20452550-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20452550C>A , CM000676.2:g.20452550C>A	GRCh38
NC_000014.8:g.20920709C>A , CM000676.1:g.20920709C>A	GRCh37
NC_000014.7:g.19990549C>A	NCBI36
NG_008718.1:g.2420C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.116-102G>T MANE Select	ENSP00000206542.4:n.116-102G>T
ENST00000206542.8:c.116-102G>T	ENSP00000206542.4:n.116-102G>T
ENST00000553640.3:c.116-102G>T	ENSP00000451580.1:n.116-102G>T
ENST00000554699.1:n.226-102G>T
ENST00000556252.1:n.486-102G>T
ENST00000556439.1:n.522-102G>T
NM_017807.3:c.116-102G>T	NP_060277.1:n.116-102G>T
XM_011536930.1:c.59-102G>T	XP_011535232.1:n.59-102G>T
XM_011536931.1:c.-181-102G>T	XP_011535233.1:n.-181-102G>T
XM_011536932.1:c.-181-102G>T	XP_011535234.1:n.-181-102G>T
NM_017807.4:c.116-102G>T MANE Select	NP_060277.1:n.116-102G>T