Canonical Allele Identifier: CA1880972061
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814274T= , CM000671.2:g.129814274T= GRCh38
NC_000009.11:g.132576553T= , CM000671.1:g.132576553T= GRCh37
NC_000009.10:g.131616374T= NCBI36
NG_008049.1:g.14889A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-52A= MANE Select ENSP00000345719.4:n.749-52A=
ENST00000651202.1:c.*17-52A= ENSP00000498222.1:n.*17-52A=
ENST00000351698.4:c.749-52A= ENSP00000345719.4:n.749-52A=
ENST00000474192.1:n.333-52A=
NM_000113.2:c.749-52A= NP_000104.1:n.749-52A=
XR_929731.1:n.1076-52A=
XR_929731.3:n.944-52A=
NM_000113.3:c.749-52A= MANE Select NP_000104.1:n.749-52A=