Canonical Allele Identifier: CA375199365
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3181290
ClinVar RCV Id: RCV004468157
dbSNP Id: rs2031110675
gnomAD v4: 9-129818898-C-T
MyVariant Identifiers: chr9:g.132581177C>T (hg19) chr9:g.129818898C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818898C>T , CM000671.2:g.129818898C>T GRCh38
NC_000009.11:g.132581177C>T , CM000671.1:g.132581177C>T GRCh37
NC_000009.10:g.131620998C>T NCBI36
NG_008049.1:g.10265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.467G>A MANE Select ENSP00000345719.4:p.Arg156Gln
ENST00000651202.1:c.563G>A ENSP00000498222.1:p.Arg188Gln
ENST00000351698.4:c.467G>A ENSP00000345719.4:p.Arg156Gln
ENST00000473604.2:n.577G>A
NM_000113.2:c.467G>A NP_000104.1:p.Arg156Gln
XR_929731.1:n.627G>A
XR_929731.3:n.495G>A
NM_000113.3:c.467G>A MANE Select NP_000104.1:p.Arg156Gln
Search 100 bp 5'
Search 100 bp 3'