Canonical Allele Identifier: CA375197982
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576466G>T (hg19) chr9:g.129814187G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814187G>T , CM000671.2:g.129814187G>T GRCh38
NC_000009.11:g.132576466G>T , CM000671.1:g.132576466G>T GRCh37
NC_000009.10:g.131616287G>T NCBI36
NG_008049.1:g.14976C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.784C>A MANE Select ENSP00000345719.4:p.Leu262Ile
ENST00000651202.1:c.*52C>A ENSP00000498222.1:n.*52C>A
ENST00000351698.4:c.784C>A ENSP00000345719.4:p.Leu262Ile
ENST00000474192.1:n.368C>A
NM_000113.2:c.784C>A NP_000104.1:p.Leu262Ile
XR_929731.1:n.1111C>A
XR_929731.3:n.979C>A
NM_000113.3:c.784C>A MANE Select NP_000104.1:p.Leu262Ile
Search 100 bp 5'
Search 100 bp 3'