Canonical Allele Identifier: CA375199366
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1308622
ClinVar RCV Id: RCV001763534
dbSNP Id: rs771740989
gnomAD v2: 9-132581178-G-A
gnomAD v3: 9-129818899-G-A
gnomAD v4: 9-129818899-G-A
COSMIC: COSM177104
MyVariant Identifiers: chr9:g.132581178G>A (hg19) chr9:g.129818899G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818899G>A , CM000671.2:g.129818899G>A GRCh38
NC_000009.11:g.132581178G>A , CM000671.1:g.132581178G>A GRCh37
NC_000009.10:g.131620999G>A NCBI36
NG_008049.1:g.10264C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.466C>T MANE Select ENSP00000345719.4:p.Arg156Ter
ENST00000651202.1:c.562C>T ENSP00000498222.1:p.Arg188Ter
ENST00000351698.4:c.466C>T ENSP00000345719.4:p.Arg156Ter
ENST00000473604.2:n.576C>T
NM_000113.2:c.466C>T NP_000104.1:p.Arg156Ter
XR_929731.1:n.626C>T
XR_929731.3:n.494C>T
NM_000113.3:c.466C>T MANE Select NP_000104.1:p.Arg156Ter
Search 100 bp 5'
Search 100 bp 3'