Canonical Allele Identifier: CA375197460
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814024T>A , CM000671.2:g.129814024T>A GRCh38
NC_000009.11:g.132576303T>A , CM000671.1:g.132576303T>A GRCh37
NC_000009.10:g.131616124T>A NCBI36
NG_008049.1:g.15139A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.947A>T MANE Select ENSP00000345719.4:p.Asp316Val
ENST00000651202.1:c.*215A>T ENSP00000498222.1:n.*215A>T
ENST00000351698.4:c.947A>T ENSP00000345719.4:p.Asp316Val
ENST00000474192.1:n.531A>T
NM_000113.2:c.947A>T NP_000104.1:p.Asp316Val
XR_929731.3:n.1142A>T
NM_000113.3:c.947A>T MANE Select NP_000104.1:p.Asp316Val