Canonical Allele Identifier: CA2692045368
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813726-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813726G>T , CM000671.2:g.129813726G>T GRCh38
NC_000009.11:g.132576005G>T , CM000671.1:g.132576005G>T GRCh37
NC_000009.10:g.131615826G>T NCBI36
NG_008049.1:g.15437C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*246C>A MANE Select ENSP00000345719.4:n.*246C>A
ENST00000651202.1:c.*513C>A ENSP00000498222.1:n.*513C>A
ENST00000351698.4:c.*246C>A ENSP00000345719.4:n.*246C>A
ENST00000474192.1:n.829C>A
NM_000113.2:c.*246C>A NP_000104.1:n.*246C>A
XR_929731.3:n.1440C>A
NM_000113.3:c.*246C>A MANE Select NP_000104.1:n.*246C>A
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