Canonical Allele Identifier: CA5278638
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs746315862

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818885A>T , CM000671.2:g.129818885A>T GRCh38
NC_000009.11:g.132581164A>T , CM000671.1:g.132581164A>T GRCh37
NC_000009.10:g.131620985A>T NCBI36
NG_008049.1:g.10278T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.480T>A MANE Select ENSP00000345719.4:p.Ser160Arg
ENST00000651202.1:c.576T>A ENSP00000498222.1:p.Ser192Arg
ENST00000351698.4:c.480T>A ENSP00000345719.4:p.Ser160Arg
ENST00000473604.2:n.590T>A
NM_000113.2:c.480T>A NP_000104.1:p.Ser160Arg
XR_929731.1:n.640T>A
XR_929731.3:n.508T>A
NM_000113.3:c.480T>A MANE Select NP_000104.1:p.Ser160Arg