Canonical Allele Identifier: CA375199397
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581190G>T (hg19) chr9:g.129818911G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818911G>T , CM000671.2:g.129818911G>T GRCh38
NC_000009.11:g.132581190G>T , CM000671.1:g.132581190G>T GRCh37
NC_000009.10:g.131621011G>T NCBI36
NG_008049.1:g.10252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.454C>A MANE Select ENSP00000345719.4:p.Gln152Lys
ENST00000651202.1:c.550C>A ENSP00000498222.1:p.Gln184Lys
ENST00000351698.4:c.454C>A ENSP00000345719.4:p.Gln152Lys
ENST00000473604.2:n.564C>A
NM_000113.2:c.454C>A NP_000104.1:p.Gln152Lys
XR_929731.1:n.614C>A
XR_929731.3:n.482C>A
NM_000113.3:c.454C>A MANE Select NP_000104.1:p.Gln152Lys
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