Canonical Allele Identifier: CA10629122
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 365228
ClinVar RCV Id: RCV000326607 RCV001618669
dbSNP Id: rs1183
gnomAD v2: 9-132576037-G-C
gnomAD v3: 9-129813758-G-C
gnomAD v4: 9-129813758-G-C
MyVariant Identifiers: chr9:g.132576037G>C (hg19) chr9:g.129813758G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813758G>C , CM000671.2:g.129813758G>C GRCh38
NC_000009.11:g.132576037G>C , CM000671.1:g.132576037G>C GRCh37
NC_000009.10:g.131615858G>C NCBI36
NG_008049.1:g.15405C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*214C>G MANE Select ENSP00000345719.4:n.*214C>G
ENST00000651202.1:c.*481C>G ENSP00000498222.1:n.*481C>G
ENST00000351698.4:c.*214C>G ENSP00000345719.4:n.*214C>G
ENST00000474192.1:n.797C>G
NM_000113.2:c.*214C>G NP_000104.1:n.*214C>G
XR_929731.3:n.1408C>G
NM_000113.3:c.*214C>G MANE Select NP_000104.1:n.*214C>G
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