Canonical Allele Identifier: CA273063
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 162491
ClinVar RCV Id: RCV000149874
dbSNP Id: rs727502811
COSMIC: COSM285871

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814108C>T , CM000671.2:g.129814108C>T GRCh38
NC_000009.11:g.132576387C>T , CM000671.1:g.132576387C>T GRCh37
NC_000009.10:g.131616208C>T NCBI36
NG_008049.1:g.15055G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.863G>A MANE Select ENSP00000345719.4:p.Arg288Gln
ENST00000651202.1:c.*131G>A ENSP00000498222.1:p.=
ENST00000351698.4:c.863G>A ENSP00000345719.4:p.Arg288Gln
ENST00000474192.1:n.447G>A
NM_000113.2:c.863G>A NP_000104.1:p.Arg288Gln
XR_929731.1:n.1190G>A
XR_929731.3:n.1058G>A
NM_000113.3:c.863G>A MANE Select NP_000104.1:p.Arg288Gln