Canonical Allele Identifier: CA375197599
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 841353
ClinVar RCV Id: RCV001043555
dbSNP Id: rs2030967244
MyVariant Identifiers: chr9:g.132576334A>C (hg19) chr9:g.129814055A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814055A>C , CM000671.2:g.129814055A>C GRCh38
NC_000009.11:g.132576334A>C , CM000671.1:g.132576334A>C GRCh37
NC_000009.10:g.131616155A>C NCBI36
NG_008049.1:g.15108T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.916T>G MANE Select ENSP00000345719.4:p.Phe306Val
ENST00000651202.1:c.*184T>G ENSP00000498222.1:n.*184T>G
ENST00000351698.4:c.916T>G ENSP00000345719.4:p.Phe306Val
ENST00000474192.1:n.500T>G
NM_000113.2:c.916T>G NP_000104.1:p.Phe306Val
XR_929731.1:n.1243T>G
XR_929731.3:n.1111T>G
NM_000113.3:c.916T>G MANE Select NP_000104.1:p.Phe306Val
Search 100 bp 5'
Search 100 bp 3'