Canonical Allele Identifier: CA1880971425
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813994A= , CM000671.2:g.129813994A= GRCh38
NC_000009.11:g.132576273A= , CM000671.1:g.132576273A= GRCh37
NC_000009.10:g.131616094A= NCBI36
NG_008049.1:g.15169T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.977T= MANE Select ENSP00000345719.4:p.Leu326=
ENST00000651202.1:c.*245T= ENSP00000498222.1:n.*245T=
ENST00000351698.4:c.977T= ENSP00000345719.4:p.Leu326=
ENST00000474192.1:n.561T=
NM_000113.2:c.977T= NP_000104.1:p.Leu326=
XR_929731.3:n.1172T=
NM_000113.3:c.977T= MANE Select NP_000104.1:p.Leu326=