Canonical Allele Identifier: CA467494271
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581140T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818861T>A , CM000671.2:g.129818861T>A GRCh38
NC_000009.11:g.132581140T>A , CM000671.1:g.132581140T>A GRCh37
NC_000009.10:g.131620961T>A NCBI36
NG_008049.1:g.10302A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.504A>T MANE Select ENSP00000345719.4:p.Ile168=
ENST00000651202.1:c.600A>T ENSP00000498222.1:p.Ile200=
ENST00000351698.4:c.504A>T ENSP00000345719.4:p.Ile168=
ENST00000473604.2:n.614A>T
NM_000113.2:c.504A>T NP_000104.1:p.Ile168=
XR_929731.1:n.664A>T
XR_929731.3:n.532A>T
NM_000113.3:c.504A>T MANE Select NP_000104.1:p.Ile168=