Canonical Allele Identifier: CA375199308
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581148T>G (hg19) chr9:g.129818869T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818869T>G , CM000671.2:g.129818869T>G GRCh38
NC_000009.11:g.132581148T>G , CM000671.1:g.132581148T>G GRCh37
NC_000009.10:g.131620969T>G NCBI36
NG_008049.1:g.10294A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.496A>C MANE Select ENSP00000345719.4:p.Ile166Leu
ENST00000651202.1:c.592A>C ENSP00000498222.1:p.Ile198Leu
ENST00000351698.4:c.496A>C ENSP00000345719.4:p.Ile166Leu
ENST00000473604.2:n.606A>C
NM_000113.2:c.496A>C NP_000104.1:p.Ile166Leu
XR_929731.1:n.656A>C
XR_929731.3:n.524A>C
NM_000113.3:c.496A>C MANE Select NP_000104.1:p.Ile166Leu
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