Canonical Allele Identifier: CA467493860
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576449A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814170A>T , CM000671.2:g.129814170A>T GRCh38
NC_000009.11:g.132576449A>T , CM000671.1:g.132576449A>T GRCh37
NC_000009.10:g.131616270A>T NCBI36
NG_008049.1:g.14993T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.801T>A MANE Select ENSP00000345719.4:p.Val267=
ENST00000651202.1:c.*69T>A ENSP00000498222.1:n.*69T>A
ENST00000351698.4:c.801T>A ENSP00000345719.4:p.Val267=
ENST00000474192.1:n.385T>A
NM_000113.2:c.801T>A NP_000104.1:p.Val267=
XR_929731.1:n.1128T>A
XR_929731.3:n.996T>A
NM_000113.3:c.801T>A MANE Select NP_000104.1:p.Val267=