Canonical Allele Identifier: CA10632524
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 365229
ClinVar RCV Id: RCV000380689
dbSNP Id: rs1182

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:p.=
ENST00000651202.1:c.*458G>T ENSP00000498222.1:p.=
ENST00000351698.4:c.*191G>T ENSP00000345719.4:p.=
ENST00000474192.1:n.774G>T
NM_000113.2:c.*191G>T NP_000104.1:p.=
XR_929731.3:n.1385G>T
NM_000113.3:c.*191G>T MANE Select NP_000104.1:p.=