Canonical Allele Identifier: CA375199358
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2531788
ClinVar RCV Id: RCV003250090
MyVariant Identifiers: chr9:g.132581174C>T (hg19) chr9:g.129818895C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818895C>T , CM000671.2:g.129818895C>T GRCh38
NC_000009.11:g.132581174C>T , CM000671.1:g.132581174C>T GRCh37
NC_000009.10:g.131620995C>T NCBI36
NG_008049.1:g.10268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.470G>A MANE Select ENSP00000345719.4:p.Gly157Asp
ENST00000651202.1:c.566G>A ENSP00000498222.1:p.Gly189Asp
ENST00000351698.4:c.470G>A ENSP00000345719.4:p.Gly157Asp
ENST00000473604.2:n.580G>A
NM_000113.2:c.470G>A NP_000104.1:p.Gly157Asp
XR_929731.1:n.630G>A
XR_929731.3:n.498G>A
NM_000113.3:c.470G>A MANE Select NP_000104.1:p.Gly157Asp
Search 100 bp 5'
Search 100 bp 3'