Canonical Allele Identifier: CA375199290
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818862A>G , CM000671.2:g.129818862A>G GRCh38
NC_000009.11:g.132581141A>G , CM000671.1:g.132581141A>G GRCh37
NC_000009.10:g.131620962A>G NCBI36
NG_008049.1:g.10301T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.503T>C MANE Select ENSP00000345719.4:p.Ile168Thr
ENST00000651202.1:c.599T>C ENSP00000498222.1:p.Ile200Thr
ENST00000351698.4:c.503T>C ENSP00000345719.4:p.Ile168Thr
ENST00000473604.2:n.613T>C
NM_000113.2:c.503T>C NP_000104.1:p.Ile168Thr
XR_929731.1:n.663T>C
XR_929731.3:n.531T>C
NM_000113.3:c.503T>C MANE Select NP_000104.1:p.Ile168Thr