Canonical Allele Identifier: CA1880978632
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818863T= , CM000671.2:g.129818863T= GRCh38
NC_000009.11:g.132581142T= , CM000671.1:g.132581142T= GRCh37
NC_000009.10:g.131620963T= NCBI36
NG_008049.1:g.10300A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.502A= MANE Select ENSP00000345719.4:p.Ile168=
ENST00000651202.1:c.598A= ENSP00000498222.1:p.Ile200=
ENST00000351698.4:c.502A= ENSP00000345719.4:p.Ile168=
ENST00000473604.2:n.612A=
NM_000113.2:c.502A= NP_000104.1:p.Ile168=
XR_929731.1:n.662A=
XR_929731.3:n.530A=
NM_000113.3:c.502A= MANE Select NP_000104.1:p.Ile168=