Canonical Allele Identifier: CA590944204
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1189655526
gnomAD v2: 9-132581270-A-G
gnomAD v3: 9-129818991-A-G
gnomAD v4: 9-129818991-A-G
MyVariant Identifiers: chr9:g.132581270A>G (hg19) chr9:g.129818991A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818991A>G , CM000671.2:g.129818991A>G GRCh38
NC_000009.11:g.132581270A>G , CM000671.1:g.132581270A>G GRCh37
NC_000009.10:g.131621091A>G NCBI36
NG_008049.1:g.10172T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-71T>C MANE Select ENSP00000345719.4:n.445-71T>C
ENST00000651202.1:c.541-71T>C ENSP00000498222.1:n.541-71T>C
ENST00000351698.4:c.445-71T>C ENSP00000345719.4:n.445-71T>C
ENST00000473604.2:n.555-71T>C
NM_000113.2:c.445-71T>C NP_000104.1:n.445-71T>C
XR_929731.1:n.605-71T>C
XR_929731.3:n.473-71T>C
NM_000113.3:c.445-71T>C MANE Select NP_000104.1:n.445-71T>C
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