Canonical Allele Identifier: CA375197978
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576465A>T (hg19) chr9:g.129814186A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814186A>T , CM000671.2:g.129814186A>T GRCh38
NC_000009.11:g.132576465A>T , CM000671.1:g.132576465A>T GRCh37
NC_000009.10:g.131616286A>T NCBI36
NG_008049.1:g.14977T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.785T>A MANE Select ENSP00000345719.4:p.Leu262His
ENST00000651202.1:c.*53T>A ENSP00000498222.1:n.*53T>A
ENST00000351698.4:c.785T>A ENSP00000345719.4:p.Leu262His
ENST00000474192.1:n.369T>A
NM_000113.2:c.785T>A NP_000104.1:p.Leu262His
XR_929731.1:n.1112T>A
XR_929731.3:n.980T>A
NM_000113.3:c.785T>A MANE Select NP_000104.1:p.Leu262His
Search 100 bp 5'
Search 100 bp 3'