Canonical Allele Identifier: CA200535221
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs956499449
gnomAD v3: 9-129819027-C-T
gnomAD v4: 9-129819027-C-T
MyVariant Identifiers: chr9:g.132581306C>T (hg19) chr9:g.129819027C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819027C>T , CM000671.2:g.129819027C>T GRCh38
NC_000009.11:g.132581306C>T , CM000671.1:g.132581306C>T GRCh37
NC_000009.10:g.131621127C>T NCBI36
NG_008049.1:g.10136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-107G>A MANE Select ENSP00000345719.4:n.445-107G>A
ENST00000651202.1:c.541-107G>A ENSP00000498222.1:n.541-107G>A
ENST00000351698.4:c.445-107G>A ENSP00000345719.4:n.445-107G>A
ENST00000473604.2:n.555-107G>A
NM_000113.2:c.445-107G>A NP_000104.1:n.445-107G>A
XR_929731.1:n.605-107G>A
XR_929731.3:n.473-107G>A
NM_000113.3:c.445-107G>A MANE Select NP_000104.1:n.445-107G>A
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