Canonical Allele Identifier: CA375199361
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818896C>G , CM000671.2:g.129818896C>G GRCh38
NC_000009.11:g.132581175C>G , CM000671.1:g.132581175C>G GRCh37
NC_000009.10:g.131620996C>G NCBI36
NG_008049.1:g.10267G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.469G>C MANE Select ENSP00000345719.4:p.Gly157Arg
ENST00000651202.1:c.565G>C ENSP00000498222.1:p.Gly189Arg
ENST00000351698.4:c.469G>C ENSP00000345719.4:p.Gly157Arg
ENST00000473604.2:n.579G>C
NM_000113.2:c.469G>C NP_000104.1:p.Gly157Arg
XR_929731.1:n.629G>C
XR_929731.3:n.497G>C
NM_000113.3:c.469G>C MANE Select NP_000104.1:p.Gly157Arg