Canonical Allele Identifier: CA467493879
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576461A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814182A>T , CM000671.2:g.129814182A>T GRCh38
NC_000009.11:g.132576461A>T , CM000671.1:g.132576461A>T GRCh37
NC_000009.10:g.131616282A>T NCBI36
NG_008049.1:g.14981T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.789T>A MANE Select ENSP00000345719.4:p.Ile263=
ENST00000651202.1:c.*57T>A ENSP00000498222.1:n.*57T>A
ENST00000351698.4:c.789T>A ENSP00000345719.4:p.Ile263=
ENST00000474192.1:n.373T>A
NM_000113.2:c.789T>A NP_000104.1:p.Ile263=
XR_929731.1:n.1116T>A
XR_929731.3:n.984T>A
NM_000113.3:c.789T>A MANE Select NP_000104.1:p.Ile263=