Canonical Allele Identifier: CA375199038
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3026728
ClinVar RCV Id: RCV003887121
MyVariant Identifiers: chr9:g.132581031A>G (hg19) chr9:g.129818752A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818752A>G , CM000671.2:g.129818752A>G GRCh38
NC_000009.11:g.132581031A>G , CM000671.1:g.132581031A>G GRCh37
NC_000009.10:g.131620852A>G NCBI36
NG_008049.1:g.10411T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.613T>C MANE Select ENSP00000345719.4:p.Phe205Leu
ENST00000651202.1:c.709T>C ENSP00000498222.1:p.Phe237Leu
ENST00000351698.4:c.613T>C ENSP00000345719.4:p.Phe205Leu
ENST00000473604.2:n.723T>C
ENST00000474192.1:n.30T>C
NM_000113.2:c.613T>C NP_000104.1:p.Phe205Leu
XR_929731.1:n.773T>C
XR_929731.3:n.641T>C
NM_000113.3:c.613T>C MANE Select NP_000104.1:p.Phe205Leu
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