Canonical Allele Identifier: CA375199317
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818874C>T , CM000671.2:g.129818874C>T GRCh38
NC_000009.11:g.132581153C>T , CM000671.1:g.132581153C>T GRCh37
NC_000009.10:g.131620974C>T NCBI36
NG_008049.1:g.10289G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.491G>A MANE Select ENSP00000345719.4:p.Arg164Lys
ENST00000651202.1:c.587G>A ENSP00000498222.1:p.Arg196Lys
ENST00000351698.4:c.491G>A ENSP00000345719.4:p.Arg164Lys
ENST00000473604.2:n.601G>A
NM_000113.2:c.491G>A NP_000104.1:p.Arg164Lys
XR_929731.1:n.651G>A
XR_929731.3:n.519G>A
NM_000113.3:c.491G>A MANE Select NP_000104.1:p.Arg164Lys