Canonical Allele Identifier: CA375199050
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581036A>C (hg19) chr9:g.129818757A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818757A>C , CM000671.2:g.129818757A>C GRCh38
NC_000009.11:g.132581036A>C , CM000671.1:g.132581036A>C GRCh37
NC_000009.10:g.131620857A>C NCBI36
NG_008049.1:g.10406T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.608T>G MANE Select ENSP00000345719.4:p.Phe203Cys
ENST00000651202.1:c.704T>G ENSP00000498222.1:p.Phe235Cys
ENST00000351698.4:c.608T>G ENSP00000345719.4:p.Phe203Cys
ENST00000473604.2:n.718T>G
ENST00000474192.1:n.25T>G
NM_000113.2:c.608T>G NP_000104.1:p.Phe203Cys
XR_929731.1:n.768T>G
XR_929731.3:n.636T>G
NM_000113.3:c.608T>G MANE Select NP_000104.1:p.Phe203Cys
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