Canonical Allele Identifier: CA375198120
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576496A>C (hg19) chr9:g.129814217A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814217A>C , CM000671.2:g.129814217A>C GRCh38
NC_000009.11:g.132576496A>C , CM000671.1:g.132576496A>C GRCh37
NC_000009.10:g.131616317A>C NCBI36
NG_008049.1:g.14946T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.754T>G MANE Select ENSP00000345719.4:p.Phe252Val
ENST00000651202.1:c.*22T>G ENSP00000498222.1:n.*22T>G
ENST00000351698.4:c.754T>G ENSP00000345719.4:p.Phe252Val
ENST00000474192.1:n.338T>G
NM_000113.2:c.754T>G NP_000104.1:p.Phe252Val
XR_929731.1:n.1081T>G
XR_929731.3:n.949T>G
NM_000113.3:c.754T>G MANE Select NP_000104.1:p.Phe252Val
Search 100 bp 5'
Search 100 bp 3'