Canonical Allele Identifier: CA10632525
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 365232
ClinVar RCV Id: RCV000407024
dbSNP Id: rs75881350
gnomAD v2: 9-132576139-C-G
gnomAD v3: 9-129813860-C-G
gnomAD v4: 9-129813860-C-G
MyVariant Identifiers: chr9:g.132576139C>G (hg19) chr9:g.129813860C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813860C>G , CM000671.2:g.129813860C>G GRCh38
NC_000009.11:g.132576139C>G , CM000671.1:g.132576139C>G GRCh37
NC_000009.10:g.131615960C>G NCBI36
NG_008049.1:g.15303G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*112G>C MANE Select ENSP00000345719.4:n.*112G>C
ENST00000651202.1:c.*379G>C ENSP00000498222.1:n.*379G>C
ENST00000351698.4:c.*112G>C ENSP00000345719.4:n.*112G>C
ENST00000474192.1:n.695G>C
NM_000113.2:c.*112G>C NP_000104.1:n.*112G>C
XR_929731.3:n.1306G>C
NM_000113.3:c.*112G>C MANE Select NP_000104.1:n.*112G>C
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