Canonical Allele Identifier: CA1880972092
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814298C= , CM000671.2:g.129814298C= GRCh38
NC_000009.11:g.132576577C= , CM000671.1:g.132576577C= GRCh37
NC_000009.10:g.131616398C= NCBI36
NG_008049.1:g.14865G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-76G= MANE Select ENSP00000345719.4:n.749-76G=
ENST00000651202.1:c.*17-76G= ENSP00000498222.1:n.*17-76G=
ENST00000351698.4:c.749-76G= ENSP00000345719.4:n.749-76G=
ENST00000474192.1:n.333-76G=
NM_000113.2:c.749-76G= NP_000104.1:n.749-76G=
XR_929731.1:n.1076-76G=
XR_929731.3:n.944-76G=
NM_000113.3:c.749-76G= MANE Select NP_000104.1:n.749-76G=