Canonical Allele Identifier: CA2786061621
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813581A>T , CM000671.2:g.129813581A>T GRCh38
NC_000009.11:g.132575860A>T , CM000671.1:g.132575860A>T GRCh37
NC_000009.10:g.131615681A>T NCBI36
NG_008049.1:g.15582T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*391T>A MANE Select ENSP00000345719.4:n.*391T>A
ENST00000651202.1:c.*658T>A ENSP00000498222.1:n.*658T>A
ENST00000351698.4:c.*391T>A ENSP00000345719.4:n.*391T>A
NM_000113.2:c.*391T>A NP_000104.1:n.*391T>A
XR_929731.3:n.1585T>A
NM_000113.3:c.*391T>A MANE Select NP_000104.1:n.*391T>A
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