Canonical Allele Identifier: CA2786061633
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813693A>G , CM000671.2:g.129813693A>G GRCh38
NC_000009.11:g.132575972A>G , CM000671.1:g.132575972A>G GRCh37
NC_000009.10:g.131615793A>G NCBI36
NG_008049.1:g.15470T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*279T>C MANE Select ENSP00000345719.4:n.*279T>C
ENST00000651202.1:c.*546T>C ENSP00000498222.1:n.*546T>C
ENST00000351698.4:c.*279T>C ENSP00000345719.4:n.*279T>C
ENST00000474192.1:n.862T>C
NM_000113.2:c.*279T>C NP_000104.1:n.*279T>C
XR_929731.3:n.1473T>C
NM_000113.3:c.*279T>C MANE Select NP_000104.1:n.*279T>C
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