Canonical Allele Identifier: CA1880978659
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818877G= , CM000671.2:g.129818877G= GRCh38
NC_000009.11:g.132581156G= , CM000671.1:g.132581156G= GRCh37
NC_000009.10:g.131620977G= NCBI36
NG_008049.1:g.10286C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.488C= MANE Select ENSP00000345719.4:p.Ala163=
ENST00000651202.1:c.584C= ENSP00000498222.1:p.Ala195=
ENST00000351698.4:c.488C= ENSP00000345719.4:p.Ala163=
ENST00000473604.2:n.598C=
NM_000113.2:c.488C= NP_000104.1:p.Ala163=
XR_929731.1:n.648C=
XR_929731.3:n.516C=
NM_000113.3:c.488C= MANE Select NP_000104.1:p.Ala163=