Canonical Allele Identifier: CA200533782
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs10988523
MyVariant Identifiers: chr9:g.132576494G>A (hg19) chr9:g.129814215G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814215G>A , CM000671.2:g.129814215G>A GRCh38
NC_000009.11:g.132576494G>A , CM000671.1:g.132576494G>A GRCh37
NC_000009.10:g.131616315G>A NCBI36
NG_008049.1:g.14948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.756C>T MANE Select ENSP00000345719.4:p.Phe252=
ENST00000651202.1:c.*24C>T ENSP00000498222.1:n.*24C>T
ENST00000351698.4:c.756C>T ENSP00000345719.4:p.Phe252=
ENST00000474192.1:n.340C>T
NM_000113.2:c.756C>T NP_000104.1:p.Phe252=
XR_929731.1:n.1083C>T
XR_929731.3:n.951C>T
NM_000113.3:c.756C>T MANE Select NP_000104.1:p.Phe252=
Search 100 bp 5'
Search 100 bp 3'