Canonical Allele Identifier: CA1880971859
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814165A= , CM000671.2:g.129814165A= GRCh38
NC_000009.11:g.132576444A= , CM000671.1:g.132576444A= GRCh37
NC_000009.10:g.131616265A= NCBI36
NG_008049.1:g.14998T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.806T= MANE Select ENSP00000345719.4:p.Phe269=
ENST00000651202.1:c.*74T= ENSP00000498222.1:n.*74T=
ENST00000351698.4:c.806T= ENSP00000345719.4:p.Phe269=
ENST00000474192.1:n.390T=
NM_000113.2:c.806T= NP_000104.1:p.Phe269=
XR_929731.1:n.1133T=
XR_929731.3:n.1001T=
NM_000113.3:c.806T= MANE Select NP_000104.1:p.Phe269=