Canonical Allele Identifier: CA410187433
Gene: OLIG1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.33070391A>T
GRCh37 chr21:g.34442697A>T
Revel Score:
ENST00000382348 (MANE Select) 0.235
ENST00000333063 0.235
gnomAD v2:
21:34442697 A / T
gnomAD v3:
21:33070391 A / T
gnomAD v4:
chr21-33070391-A-T
Joint Max Group AF 0.00000495 (AFR)
Genomes Max Group AF 0.00000891 (AFR)
Exomes Max Group AF 0.00000141 (NFE)
ClinVar RCV:
RCV004113552
ClinVar Variation:
2251325
dbSNP:
778229300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33070391A>T , CM000683.2:g.33070391A>T GRCh38
NC_000021.8:g.34442697A>T , CM000683.1:g.34442697A>T GRCh37
NC_000021.7:g.33364567A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382348.2:c.145A>T MANE Select ENSP00000371785.1:p.Thr49Ser
ENST00000382348.1:c.145A>T ENSP00000371785.1:p.Thr49Ser
NM_138983.2:c.145A>T NP_620450.2:p.Thr49Ser
NM_138983.3:c.145A>T MANE Select NP_620450.2:p.Thr49Ser
Search 100 bp 5'
Search 100 bp 3'