Canonical Allele Identifier: CA467493882
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576464G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814185G>A , CM000671.2:g.129814185G>A GRCh38
NC_000009.11:g.132576464G>A , CM000671.1:g.132576464G>A GRCh37
NC_000009.10:g.131616285G>A NCBI36
NG_008049.1:g.14978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.786C>T MANE Select ENSP00000345719.4:p.Leu262=
ENST00000651202.1:c.*54C>T ENSP00000498222.1:n.*54C>T
ENST00000351698.4:c.786C>T ENSP00000345719.4:p.Leu262=
ENST00000474192.1:n.370C>T
NM_000113.2:c.786C>T NP_000104.1:p.Leu262=
XR_929731.1:n.1113C>T
XR_929731.3:n.981C>T
NM_000113.3:c.786C>T MANE Select NP_000104.1:p.Leu262=
Search 100 bp 5'
Search 100 bp 3'