Canonical Allele Identifier: CA375199363
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818898C>A , CM000671.2:g.129818898C>A GRCh38
NC_000009.11:g.132581177C>A , CM000671.1:g.132581177C>A GRCh37
NC_000009.10:g.131620998C>A NCBI36
NG_008049.1:g.10265G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.467G>T MANE Select ENSP00000345719.4:p.Arg156Leu
ENST00000651202.1:c.563G>T ENSP00000498222.1:p.Arg188Leu
ENST00000351698.4:c.467G>T ENSP00000345719.4:p.Arg156Leu
ENST00000473604.2:n.577G>T
NM_000113.2:c.467G>T NP_000104.1:p.Arg156Leu
XR_929731.1:n.627G>T
XR_929731.3:n.495G>T
NM_000113.3:c.467G>T MANE Select NP_000104.1:p.Arg156Leu