Canonical Allele Identifier: CA467365827
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2846201
ClinVar RCV Id: RCV003747387
MyVariant Identifiers: chr9:g.132584953C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129822674C>T , CM000671.2:g.129822674C>T GRCh38
NC_000009.11:g.132584953C>T , CM000671.1:g.132584953C>T GRCh37
NC_000009.10:g.131624774C>T NCBI36
NG_008049.1:g.6489G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.351G>A MANE Select ENSP00000345719.4:p.Glu117=
ENST00000651202.1:c.447G>A ENSP00000498222.1:p.Glu149=
ENST00000351698.4:c.351G>A ENSP00000345719.4:p.Glu117=
ENST00000473084.1:n.370G>A
ENST00000473604.2:n.461G>A
NM_000113.2:c.351G>A NP_000104.1:p.Glu117=
XR_929731.1:n.511G>A
XR_929731.3:n.379G>A
NM_000113.3:c.351G>A MANE Select NP_000104.1:p.Glu117=
Search 100 bp 5'
Search 100 bp 3'