Canonical Allele Identifier: CA1880971826
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814158G= , CM000671.2:g.129814158G= GRCh38
NC_000009.11:g.132576437G= , CM000671.1:g.132576437G= GRCh37
NC_000009.10:g.131616258G= NCBI36
NG_008049.1:g.15005C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.813C= MANE Select ENSP00000345719.4:p.Pro271=
ENST00000651202.1:c.*81C= ENSP00000498222.1:n.*81C=
ENST00000351698.4:c.813C= ENSP00000345719.4:p.Pro271=
ENST00000474192.1:n.397C=
NM_000113.2:c.813C= NP_000104.1:p.Pro271=
XR_929731.1:n.1140C=
XR_929731.3:n.1008C=
NM_000113.3:c.813C= MANE Select NP_000104.1:p.Pro271=