Canonical Allele Identifier: CA15246704
Gene: OSBPL11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.125594988G>A
GRCh37 chr3:g.125313832G>A
gnomAD v2:
3:125313832 G / A
gnomAD v3:
3:125594988 G / A
gnomAD v4:
chr3-125594988-G-A
Joint Max Group AF 0.14811564 (AFR)
Genomes Max Group AF 0.14627586 (AFR)
Exomes Max Group AF 0.14995736 (AFR)
dbSNP:
1055419
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.125594988G>A , CM000665.2:g.125594988G>A GRCh38
NC_000003.11:g.125313832G>A , CM000665.1:g.125313832G>A GRCh37
NC_000003.10:g.126796522G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296220.6:c.-188C>T MANE Select ENSP00000296220.5:n.-188C>T
ENST00000296220.5:c.-188C>T ENSP00000296220.5:n.-188C>T
NM_022776.4:c.-188C>T NP_073613.2:n.-188C>T
XM_011512384.1:c.-188C>T XP_011510686.1:n.-188C>T
XR_001739992.2:n.136C>T
NM_022776.5:c.-188C>T MANE Select NP_073613.2:n.-188C>T
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