Canonical Allele Identifier: CA1880971419
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813990A= , CM000671.2:g.129813990A= GRCh38
NC_000009.11:g.132576269A= , CM000671.1:g.132576269A= GRCh37
NC_000009.10:g.131616090A= NCBI36
NG_008049.1:g.15173T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.981T= MANE Select ENSP00000345719.4:p.Asp327=
ENST00000651202.1:c.*249T= ENSP00000498222.1:n.*249T=
ENST00000351698.4:c.981T= ENSP00000345719.4:p.Asp327=
ENST00000474192.1:n.565T=
NM_000113.2:c.981T= NP_000104.1:p.Asp327=
XR_929731.3:n.1176T=
NM_000113.3:c.981T= MANE Select NP_000104.1:p.Asp327=