Canonical Allele Identifier: CA467494196
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581074A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818795A>G , CM000671.2:g.129818795A>G GRCh38
NC_000009.11:g.132581074A>G , CM000671.1:g.132581074A>G GRCh37
NC_000009.10:g.131620895A>G NCBI36
NG_008049.1:g.10368T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.570T>C MANE Select ENSP00000345719.4:p.Tyr190=
ENST00000651202.1:c.666T>C ENSP00000498222.1:p.Tyr222=
ENST00000351698.4:c.570T>C ENSP00000345719.4:p.Tyr190=
ENST00000473604.2:n.680T>C
NM_000113.2:c.570T>C NP_000104.1:p.Tyr190=
XR_929731.1:n.730T>C
XR_929731.3:n.598T>C
NM_000113.3:c.570T>C MANE Select NP_000104.1:p.Tyr190=