Canonical Allele Identifier: CA10632524
Gene: TOR1A HGNC NCBI
ClinVar RCV:
RCV000380689
RCV001514465
RCV001597126
ClinVar Variation:
365229
dbSNP:
1182
gnomAD v2:
9:132576060 C / A
gnomAD v3:
9:129813781 C / A
gnomAD v4:
chr9-129813781-C-A
Joint Max Group AF 0.22860649 (EAS)
Genomes Max Group AF 0.21572864 (NFE)
Exomes Max Group AF 0.23342392 (EAS)
MyVariant.info:
GRCh38 chr9:g.129813781C>A
GRCh37 chr9:g.132576060C>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813781C>A , CM000671.2:g.129813781C>A GRCh38
NC_000009.11:g.132576060C>A , CM000671.1:g.132576060C>A GRCh37
NC_000009.10:g.131615881C>A NCBI36
NG_008049.1:g.15382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*191G>T MANE Select ENSP00000345719.4:n.*191G>T
ENST00000651202.1:c.*458G>T ENSP00000498222.1:n.*458G>T
ENST00000351698.4:c.*191G>T ENSP00000345719.4:n.*191G>T
ENST00000474192.1:n.774G>T
NM_000113.2:c.*191G>T NP_000104.1:n.*191G>T
XR_929731.3:n.1385G>T
NM_000113.3:c.*191G>T MANE Select NP_000104.1:n.*191G>T
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