Canonical Allele Identifier: CA2692045299
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813589-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813589A>T , CM000671.2:g.129813589A>T GRCh38
NC_000009.11:g.132575868A>T , CM000671.1:g.132575868A>T GRCh37
NC_000009.10:g.131615689A>T NCBI36
NG_008049.1:g.15574T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*383T>A MANE Select ENSP00000345719.4:n.*383T>A
ENST00000651202.1:c.*650T>A ENSP00000498222.1:n.*650T>A
ENST00000351698.4:c.*383T>A ENSP00000345719.4:n.*383T>A
NM_000113.2:c.*383T>A NP_000104.1:n.*383T>A
XR_929731.3:n.1577T>A
NM_000113.3:c.*383T>A MANE Select NP_000104.1:n.*383T>A
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