Canonical Allele Identifier: CA375197670
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576354C>A (hg19) chr9:g.129814075C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814075C>A , CM000671.2:g.129814075C>A GRCh38
NC_000009.11:g.132576354C>A , CM000671.1:g.132576354C>A GRCh37
NC_000009.10:g.131616175C>A NCBI36
NG_008049.1:g.15088G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.896G>T MANE Select ENSP00000345719.4:p.Arg299Ile
ENST00000651202.1:c.*164G>T ENSP00000498222.1:n.*164G>T
ENST00000351698.4:c.896G>T ENSP00000345719.4:p.Arg299Ile
ENST00000474192.1:n.480G>T
NM_000113.2:c.896G>T NP_000104.1:p.Arg299Ile
XR_929731.1:n.1223G>T
XR_929731.3:n.1091G>T
NM_000113.3:c.896G>T MANE Select NP_000104.1:p.Arg299Ile
Search 100 bp 5'
Search 100 bp 3'