Canonical Allele Identifier: CA1880978677
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818881A= , CM000671.2:g.129818881A= GRCh38
NC_000009.11:g.132581160A= , CM000671.1:g.132581160A= GRCh37
NC_000009.10:g.131620981A= NCBI36
NG_008049.1:g.10282T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.484T= MANE Select ENSP00000345719.4:p.Cys162=
ENST00000651202.1:c.580T= ENSP00000498222.1:p.Cys194=
ENST00000351698.4:c.484T= ENSP00000345719.4:p.Cys162=
ENST00000473604.2:n.594T=
NM_000113.2:c.484T= NP_000104.1:p.Cys162=
XR_929731.1:n.644T=
XR_929731.3:n.512T=
NM_000113.3:c.484T= MANE Select NP_000104.1:p.Cys162=