Canonical Allele Identifier: CA117318
Gene: TOR1A HGNC NCBI
ClinVar RCV:
RCV000005490
RCV000020122
RCV000178043
RCV001513759
RCV001659683
RCV002496268
ClinVar Variation:
5182
COSMIC:
COSM4987776
dbSNP:
1801968
gnomAD v2:
9:132580901 C / G
gnomAD v3:
9:129818622 C / G
gnomAD v4:
chr9-129818622-C-G
Joint Max Group AF 0.14765326 (SAS)
Genomes Max Group AF 0.14145445 (SAS)
Exomes Max Group AF 0.14755227 (SAS)
MyVariant.info:
GRCh38 chr9:g.129818622C>G
GRCh37 chr9:g.132580901C>G
Revel Score:
ENST00000427355 0.098
ENST00000351698 (MANE Select) 0.098
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818622C>G , CM000671.2:g.129818622C>G GRCh38
NC_000009.11:g.132580901C>G , CM000671.1:g.132580901C>G GRCh37
NC_000009.10:g.131620722C>G NCBI36
NG_008049.1:g.10541G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.646G>C MANE Select ENSP00000345719.4:p.Asp216His
ENST00000651202.1:c.742G>C ENSP00000498222.1:p.Asp248His
ENST00000351698.4:c.646G>C ENSP00000345719.4:p.Asp216His
ENST00000473604.2:n.756G>C
ENST00000474192.1:n.63G>C
NM_000113.2:c.646G>C NP_000104.1:p.Asp216His
XR_929731.1:n.806G>C
XR_929731.3:n.674G>C
NM_000113.3:c.646G>C MANE Select NP_000104.1:p.Asp216His
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