Canonical Allele Identifier: CA836995228

Gene: OSBPL3

Linked Data

• dbSNP Id: rs1161602940
• gnomAD v3: 7-24918456-C-A
• gnomAD v4: 7-24918456-C-A
• MyVariant Identifiers: chr7:g.24958075C>A (hg19) ; chr7:g.24918456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24918456C>A , CM000669.2:g.24918456C>A	GRCh38
NC_000007.13:g.24958075C>A , CM000669.1:g.24958075C>A	GRCh37
NC_000007.12:g.24924600C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313367.7:c.-149-25835G>T MANE Select	ENSP00000315410.2:n.-149-25835G>T
ENST00000313367.6:c.-149-25835G>T	ENSP00000315410.2:n.-149-25835G>T
ENST00000415952.1:c.-149-25835G>T	ENSP00000411249.1:n.-149-25835G>T
NM_015550.3:c.-149-25835G>T	NP_056365.1:n.-149-25835G>T
XM_006715681.2:c.-149-25835G>T	XP_006715744.1:n.-149-25835G>T
XM_006715682.2:c.-149-25835G>T	XP_006715745.1:n.-149-25835G>T
XM_006715683.2:c.-149-25835G>T	XP_006715746.1:n.-149-25835G>T
XM_011515259.1:c.-628-25835G>T	XP_011513561.1:n.-628-25835G>T
XR_428073.2:n.315-25835G>T
XR_428074.2:n.300-25835G>T
XR_428075.2:n.300-25835G>T
XR_926927.1:n.315-25835G>T
XR_926928.1:n.315-25835G>T
XR_926929.1:n.315-25835G>T
XM_006715681.3:c.-149-25835G>T	XP_006715744.1:n.-149-25835G>T
XM_006715682.3:c.-149-25835G>T	XP_006715745.1:n.-149-25835G>T
XM_006715683.3:c.-149-25835G>T	XP_006715746.1:n.-149-25835G>T
XM_006715684.4:c.-1192-25835G>T	XP_006715747.1:n.-1192-25835G>T
XM_011515259.2:c.-628-25835G>T	XP_011513561.1:n.-628-25835G>T
XM_017011948.1:c.-491-25835G>T	XP_016867437.1:n.-491-25835G>T
XM_017011949.1:c.-628-25835G>T	XP_016867438.1:n.-628-25835G>T
XR_001744620.1:n.334-25835G>T
XR_428073.3:n.334-25835G>T
XR_428074.3:n.334-25835G>T
XR_428075.3:n.334-25835G>T
XR_926927.2:n.315-25835G>T
NM_015550.4:c.-149-25835G>T MANE Select	NP_056365.1:n.-149-25835G>T