Canonical Allele Identifier: CA1880971459
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814006A= , CM000671.2:g.129814006A= GRCh38
NC_000009.11:g.132576285A= , CM000671.1:g.132576285A= GRCh37
NC_000009.10:g.131616106A= NCBI36
NG_008049.1:g.15157T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.965T= MANE Select ENSP00000345719.4:p.Val322=
ENST00000651202.1:c.*233T= ENSP00000498222.1:n.*233T=
ENST00000351698.4:c.965T= ENSP00000345719.4:p.Val322=
ENST00000474192.1:n.549T=
NM_000113.2:c.965T= NP_000104.1:p.Val322=
XR_929731.3:n.1160T=
NM_000113.3:c.965T= MANE Select NP_000104.1:p.Val322=