Canonical Allele Identifier: CA200535232
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1018379600
gnomAD v2: 9-132581373-C-T
gnomAD v3: 9-129819094-C-T
gnomAD v4: 9-129819094-C-T
MyVariant Identifiers: chr9:g.132581373C>T (hg19) chr9:g.129819094C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819094C>T , CM000671.2:g.129819094C>T GRCh38
NC_000009.11:g.132581373C>T , CM000671.1:g.132581373C>T GRCh37
NC_000009.10:g.131621194C>T NCBI36
NG_008049.1:g.10069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-174G>A MANE Select ENSP00000345719.4:n.445-174G>A
ENST00000651202.1:c.541-174G>A ENSP00000498222.1:n.541-174G>A
ENST00000351698.4:c.445-174G>A ENSP00000345719.4:n.445-174G>A
ENST00000473604.2:n.555-174G>A
NM_000113.2:c.445-174G>A NP_000104.1:n.445-174G>A
XR_929731.1:n.605-174G>A
XR_929731.3:n.473-174G>A
NM_000113.3:c.445-174G>A MANE Select NP_000104.1:n.445-174G>A
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