Canonical Allele Identifier: CA2559571176
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129819068-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819068T>C , CM000671.2:g.129819068T>C GRCh38
NC_000009.11:g.132581347T>C , CM000671.1:g.132581347T>C GRCh37
NC_000009.10:g.131621168T>C NCBI36
NG_008049.1:g.10095A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-148A>G MANE Select ENSP00000345719.4:n.445-148A>G
ENST00000651202.1:c.541-148A>G ENSP00000498222.1:n.541-148A>G
ENST00000351698.4:c.445-148A>G ENSP00000345719.4:n.445-148A>G
ENST00000473604.2:n.555-148A>G
NM_000113.2:c.445-148A>G NP_000104.1:n.445-148A>G
XR_929731.1:n.605-148A>G
XR_929731.3:n.473-148A>G
NM_000113.3:c.445-148A>G MANE Select NP_000104.1:n.445-148A>G
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