Canonical Allele Identifier: CA1880971956
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814198A= , CM000671.2:g.129814198A= GRCh38
NC_000009.11:g.132576477A= , CM000671.1:g.132576477A= GRCh37
NC_000009.10:g.131616298A= NCBI36
NG_008049.1:g.14965T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.773T= MANE Select ENSP00000345719.4:p.Ile258=
ENST00000651202.1:c.*41T= ENSP00000498222.1:n.*41T=
ENST00000351698.4:c.773T= ENSP00000345719.4:p.Ile258=
ENST00000474192.1:n.357T=
NM_000113.2:c.773T= NP_000104.1:p.Ile258=
XR_929731.1:n.1100T=
XR_929731.3:n.968T=
NM_000113.3:c.773T= MANE Select NP_000104.1:p.Ile258=