Canonical Allele Identifier: CA467494066
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581176T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818897T>G , CM000671.2:g.129818897T>G GRCh38
NC_000009.11:g.132581176T>G , CM000671.1:g.132581176T>G GRCh37
NC_000009.10:g.131620997T>G NCBI36
NG_008049.1:g.10266A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.468A>C MANE Select ENSP00000345719.4:p.Arg156=
ENST00000651202.1:c.564A>C ENSP00000498222.1:p.Arg188=
ENST00000351698.4:c.468A>C ENSP00000345719.4:p.Arg156=
ENST00000473604.2:n.578A>C
NM_000113.2:c.468A>C NP_000104.1:p.Arg156=
XR_929731.1:n.628A>C
XR_929731.3:n.496A>C
NM_000113.3:c.468A>C MANE Select NP_000104.1:p.Arg156=
Search 100 bp 5'
Search 100 bp 3'