Canonical Allele Identifier: CA375199368
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818901A>C , CM000671.2:g.129818901A>C GRCh38
NC_000009.11:g.132581180A>C , CM000671.1:g.132581180A>C GRCh37
NC_000009.10:g.131621001A>C NCBI36
NG_008049.1:g.10262T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.464T>G MANE Select ENSP00000345719.4:p.Ile155Ser
ENST00000651202.1:c.560T>G ENSP00000498222.1:p.Ile187Ser
ENST00000351698.4:c.464T>G ENSP00000345719.4:p.Ile155Ser
ENST00000473604.2:n.574T>G
NM_000113.2:c.464T>G NP_000104.1:p.Ile155Ser
XR_929731.1:n.624T>G
XR_929731.3:n.492T>G
NM_000113.3:c.464T>G MANE Select NP_000104.1:p.Ile155Ser