Canonical Allele Identifier: CA2692045230
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813539-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813539A>C , CM000671.2:g.129813539A>C GRCh38
NC_000009.11:g.132575818A>C , CM000671.1:g.132575818A>C GRCh37
NC_000009.10:g.131615639A>C NCBI36
NG_008049.1:g.15624T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*433T>G MANE Select ENSP00000345719.4:n.*433T>G
ENST00000651202.1:c.*700T>G ENSP00000498222.1:n.*700T>G
ENST00000351698.4:c.*433T>G ENSP00000345719.4:n.*433T>G
NM_000113.2:c.*433T>G NP_000104.1:n.*433T>G
XR_929731.3:n.1627T>G
NM_000113.3:c.*433T>G MANE Select NP_000104.1:n.*433T>G
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