Canonical Allele Identifier: CA200533545
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs543611244
gnomAD v3: 9-129813580-T-C
gnomAD v4: 9-129813580-T-C
MyVariant Identifiers: chr9:g.132575859T>C (hg19) chr9:g.129813580T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813580T>C , CM000671.2:g.129813580T>C GRCh38
NC_000009.11:g.132575859T>C , CM000671.1:g.132575859T>C GRCh37
NC_000009.10:g.131615680T>C NCBI36
NG_008049.1:g.15583A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*392A>G MANE Select ENSP00000345719.4:n.*392A>G
ENST00000651202.1:c.*659A>G ENSP00000498222.1:n.*659A>G
ENST00000351698.4:c.*392A>G ENSP00000345719.4:n.*392A>G
NM_000113.2:c.*392A>G NP_000104.1:n.*392A>G
XR_929731.3:n.1586A>G
NM_000113.3:c.*392A>G MANE Select NP_000104.1:n.*392A>G
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