Canonical Allele Identifier: CA154961352
Gene: OSBPL3 HGNC NCBI

Linked Data

dbSNP Id: rs952591800
gnomAD v3: 7-24918431-G-A
gnomAD v4: 7-24918431-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24918431G>A , CM000669.2:g.24918431G>A GRCh38
NC_000007.13:g.24958050G>A , CM000669.1:g.24958050G>A GRCh37
NC_000007.12:g.24924575G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000313367.7:c.-149-25810C>T MANE Select ENSP00000315410.2:n.-149-25810C>T
ENST00000313367.6:c.-149-25810C>T ENSP00000315410.2:n.-149-25810C>T
ENST00000415952.1:c.-149-25810C>T ENSP00000411249.1:n.-149-25810C>T
NM_015550.3:c.-149-25810C>T NP_056365.1:n.-149-25810C>T
XM_006715681.2:c.-149-25810C>T XP_006715744.1:n.-149-25810C>T
XM_006715682.2:c.-149-25810C>T XP_006715745.1:n.-149-25810C>T
XM_006715683.2:c.-149-25810C>T XP_006715746.1:n.-149-25810C>T
XM_011515259.1:c.-628-25810C>T XP_011513561.1:n.-628-25810C>T
XR_428073.2:n.315-25810C>T
XR_428074.2:n.300-25810C>T
XR_428075.2:n.300-25810C>T
XR_926927.1:n.315-25810C>T
XR_926928.1:n.315-25810C>T
XR_926929.1:n.315-25810C>T
XM_006715681.3:c.-149-25810C>T XP_006715744.1:n.-149-25810C>T
XM_006715682.3:c.-149-25810C>T XP_006715745.1:n.-149-25810C>T
XM_006715683.3:c.-149-25810C>T XP_006715746.1:n.-149-25810C>T
XM_006715684.4:c.-1192-25810C>T XP_006715747.1:n.-1192-25810C>T
XM_011515259.2:c.-628-25810C>T XP_011513561.1:n.-628-25810C>T
XM_017011948.1:c.-491-25810C>T XP_016867437.1:n.-491-25810C>T
XM_017011949.1:c.-628-25810C>T XP_016867438.1:n.-628-25810C>T
XR_001744620.1:n.334-25810C>T
XR_428073.3:n.334-25810C>T
XR_428074.3:n.334-25810C>T
XR_428075.3:n.334-25810C>T
XR_926927.2:n.315-25810C>T
NM_015550.4:c.-149-25810C>T MANE Select NP_056365.1:n.-149-25810C>T