Canonical Allele Identifier: CA375197482
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576309A>C (hg19) chr9:g.129814030A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814030A>C , CM000671.2:g.129814030A>C GRCh38
NC_000009.11:g.132576309A>C , CM000671.1:g.132576309A>C GRCh37
NC_000009.10:g.131616130A>C NCBI36
NG_008049.1:g.15133T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.941T>G MANE Select ENSP00000345719.4:p.Phe314Cys
ENST00000651202.1:c.*209T>G ENSP00000498222.1:n.*209T>G
ENST00000351698.4:c.941T>G ENSP00000345719.4:p.Phe314Cys
ENST00000474192.1:n.525T>G
NM_000113.2:c.941T>G NP_000104.1:p.Phe314Cys
XR_929731.3:n.1136T>G
NM_000113.3:c.941T>G MANE Select NP_000104.1:p.Phe314Cys
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