Canonical Allele Identifier: CA375198027
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576478T>A (hg19) chr9:g.129814199T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814199T>A , CM000671.2:g.129814199T>A GRCh38
NC_000009.11:g.132576478T>A , CM000671.1:g.132576478T>A GRCh37
NC_000009.10:g.131616299T>A NCBI36
NG_008049.1:g.14964A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.772A>T MANE Select ENSP00000345719.4:p.Ile258Phe
ENST00000651202.1:c.*40A>T ENSP00000498222.1:n.*40A>T
ENST00000351698.4:c.772A>T ENSP00000345719.4:p.Ile258Phe
ENST00000474192.1:n.356A>T
NM_000113.2:c.772A>T NP_000104.1:p.Ile258Phe
XR_929731.1:n.1099A>T
XR_929731.3:n.967A>T
NM_000113.3:c.772A>T MANE Select NP_000104.1:p.Ile258Phe
Search 100 bp 5'
Search 100 bp 3'