Canonical Allele Identifier: CA5278646
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2043764
ClinVar RCV Id: RCV002913234
dbSNP Id: rs764767507
ExAC: 9:132581210 A / AG
gnomAD v2: 9-132581210-A-AG
gnomAD v3: 9-129818931-A-AG
gnomAD v4: 9-129818931-A-AG
MyVariant Identifiers: chr9:g.132581210_132581211insG (hg19) chr9:g.129818931_129818932insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818935dup , CM000671.2:g.129818935dup GRCh38
NC_000009.11:g.132581214dup , CM000671.1:g.132581214dup GRCh37
NC_000009.10:g.131621035dup NCBI36
NG_008049.1:g.10231dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-12dup MANE Select ENSP00000345719.4:n.445-12dup
ENST00000651202.1:c.541-12dup ENSP00000498222.1:n.541-12dup
ENST00000351698.4:c.445-12dup ENSP00000345719.4:n.445-12dup
ENST00000473604.2:n.555-12dup
NM_000113.2:c.445-12dup NP_000104.1:n.445-12dup
XR_929731.1:n.605-12dup
XR_929731.3:n.473-12dup
NM_000113.3:c.445-12dup MANE Select NP_000104.1:n.445-12dup
Search 100 bp 5'
Search 100 bp 3'