Canonical Allele Identifier: CA375199418
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818919T>C , CM000671.2:g.129818919T>C GRCh38
NC_000009.11:g.132581198T>C , CM000671.1:g.132581198T>C GRCh37
NC_000009.10:g.131621019T>C NCBI36
NG_008049.1:g.10244A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.446A>G MANE Select ENSP00000345719.4:p.Asp149Gly
ENST00000651202.1:c.542A>G ENSP00000498222.1:p.Asp181Gly
ENST00000351698.4:c.446A>G ENSP00000345719.4:p.Asp149Gly
ENST00000473604.2:n.556A>G
NM_000113.2:c.446A>G NP_000104.1:p.Asp149Gly
XR_929731.1:n.606A>G
XR_929731.3:n.474A>G
NM_000113.3:c.446A>G MANE Select NP_000104.1:p.Asp149Gly