Canonical Allele Identifier: CA1880972062
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814275A= , CM000671.2:g.129814275A= GRCh38
NC_000009.11:g.132576554A= , CM000671.1:g.132576554A= GRCh37
NC_000009.10:g.131616375A= NCBI36
NG_008049.1:g.14888T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-53T= MANE Select ENSP00000345719.4:n.749-53T=
ENST00000651202.1:c.*17-53T= ENSP00000498222.1:n.*17-53T=
ENST00000351698.4:c.749-53T= ENSP00000345719.4:n.749-53T=
ENST00000474192.1:n.333-53T=
NM_000113.2:c.749-53T= NP_000104.1:n.749-53T=
XR_929731.1:n.1076-53T=
XR_929731.3:n.944-53T=
NM_000113.3:c.749-53T= MANE Select NP_000104.1:n.749-53T=