Canonical Allele Identifier: CA2786061640
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813853A>G , CM000671.2:g.129813853A>G GRCh38
NC_000009.11:g.132576132A>G , CM000671.1:g.132576132A>G GRCh37
NC_000009.10:g.131615953A>G NCBI36
NG_008049.1:g.15310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*119T>C MANE Select ENSP00000345719.4:n.*119T>C
ENST00000651202.1:c.*386T>C ENSP00000498222.1:n.*386T>C
ENST00000351698.4:c.*119T>C ENSP00000345719.4:n.*119T>C
ENST00000474192.1:n.702T>C
NM_000113.2:c.*119T>C NP_000104.1:n.*119T>C
XR_929731.3:n.1313T>C
NM_000113.3:c.*119T>C MANE Select NP_000104.1:n.*119T>C
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