Canonical Allele Identifier: CA1880971685
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814101A= , CM000671.2:g.129814101A= GRCh38
NC_000009.11:g.132576380A= , CM000671.1:g.132576380A= GRCh37
NC_000009.10:g.131616201A= NCBI36
NG_008049.1:g.15062T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.870T= MANE Select ENSP00000345719.4:p.Tyr290=
ENST00000651202.1:c.*138T= ENSP00000498222.1:n.*138T=
ENST00000351698.4:c.870T= ENSP00000345719.4:p.Tyr290=
ENST00000474192.1:n.454T=
NM_000113.2:c.870T= NP_000104.1:p.Tyr290=
XR_929731.1:n.1197T=
XR_929731.3:n.1065T=
NM_000113.3:c.870T= MANE Select NP_000104.1:p.Tyr290=