Canonical Allele Identifier: CA200535229
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs963817848
gnomAD v3: 9-129819078-A-G
gnomAD v4: 9-129819078-A-G
MyVariant Identifiers: chr9:g.132581357A>G (hg19) chr9:g.129819078A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819078A>G , CM000671.2:g.129819078A>G GRCh38
NC_000009.11:g.132581357A>G , CM000671.1:g.132581357A>G GRCh37
NC_000009.10:g.131621178A>G NCBI36
NG_008049.1:g.10085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-158T>C MANE Select ENSP00000345719.4:n.445-158T>C
ENST00000651202.1:c.541-158T>C ENSP00000498222.1:n.541-158T>C
ENST00000351698.4:c.445-158T>C ENSP00000345719.4:n.445-158T>C
ENST00000473604.2:n.555-158T>C
NM_000113.2:c.445-158T>C NP_000104.1:n.445-158T>C
XR_929731.1:n.605-158T>C
XR_929731.3:n.473-158T>C
NM_000113.3:c.445-158T>C MANE Select NP_000104.1:n.445-158T>C
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