Canonical Allele Identifier: CA375199287
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129818860-A-C
MyVariant Identifiers: chr9:g.132581139A>C (hg19) chr9:g.129818860A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818860A>C , CM000671.2:g.129818860A>C GRCh38
NC_000009.11:g.132581139A>C , CM000671.1:g.132581139A>C GRCh37
NC_000009.10:g.131620960A>C NCBI36
NG_008049.1:g.10303T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.505T>G MANE Select ENSP00000345719.4:p.Phe169Val
ENST00000651202.1:c.601T>G ENSP00000498222.1:p.Phe201Val
ENST00000351698.4:c.505T>G ENSP00000345719.4:p.Phe169Val
ENST00000473604.2:n.615T>G
NM_000113.2:c.505T>G NP_000104.1:p.Phe169Val
XR_929731.1:n.665T>G
XR_929731.3:n.533T>G
NM_000113.3:c.505T>G MANE Select NP_000104.1:p.Phe169Val
Search 100 bp 5'
Search 100 bp 3'