Canonical Allele Identifier: CA375199353
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581171T>G (hg19) chr9:g.129818892T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818892T>G , CM000671.2:g.129818892T>G GRCh38
NC_000009.11:g.132581171T>G , CM000671.1:g.132581171T>G GRCh37
NC_000009.10:g.131620992T>G NCBI36
NG_008049.1:g.10271A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.473A>C MANE Select ENSP00000345719.4:p.Asn158Thr
ENST00000651202.1:c.569A>C ENSP00000498222.1:p.Asn190Thr
ENST00000351698.4:c.473A>C ENSP00000345719.4:p.Asn158Thr
ENST00000473604.2:n.583A>C
NM_000113.2:c.473A>C NP_000104.1:p.Asn158Thr
XR_929731.1:n.633A>C
XR_929731.3:n.501A>C
NM_000113.3:c.473A>C MANE Select NP_000104.1:p.Asn158Thr
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