Canonical Allele Identifier: CA1880972122
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814318A= , CM000671.2:g.129814318A= GRCh38
NC_000009.11:g.132576597A= , CM000671.1:g.132576597A= GRCh37
NC_000009.10:g.131616418A= NCBI36
NG_008049.1:g.14845T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-96T= MANE Select ENSP00000345719.4:n.749-96T=
ENST00000651202.1:c.*17-96T= ENSP00000498222.1:n.*17-96T=
ENST00000351698.4:c.749-96T= ENSP00000345719.4:n.749-96T=
ENST00000474192.1:n.333-96T=
NM_000113.2:c.749-96T= NP_000104.1:n.749-96T=
XR_929731.1:n.1076-96T=
XR_929731.3:n.944-96T=
NM_000113.3:c.749-96T= MANE Select NP_000104.1:n.749-96T=