Canonical Allele Identifier: CA1880978627
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818859A= , CM000671.2:g.129818859A= GRCh38
NC_000009.11:g.132581138A= , CM000671.1:g.132581138A= GRCh37
NC_000009.10:g.131620959A= NCBI36
NG_008049.1:g.10304T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.506T= MANE Select ENSP00000345719.4:p.Phe169=
ENST00000651202.1:c.602T= ENSP00000498222.1:p.Phe201=
ENST00000351698.4:c.506T= ENSP00000345719.4:p.Phe169=
ENST00000473604.2:n.616T=
NM_000113.2:c.506T= NP_000104.1:p.Phe169=
XR_929731.1:n.666T=
XR_929731.3:n.534T=
NM_000113.3:c.506T= MANE Select NP_000104.1:p.Phe169=