Canonical Allele Identifier: CA375199389
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818908A>T , CM000671.2:g.129818908A>T GRCh38
NC_000009.11:g.132581187A>T , CM000671.1:g.132581187A>T GRCh37
NC_000009.10:g.131621008A>T NCBI36
NG_008049.1:g.10255T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.457T>A MANE Select ENSP00000345719.4:p.Leu153Met
ENST00000651202.1:c.553T>A ENSP00000498222.1:p.Leu185Met
ENST00000351698.4:c.457T>A ENSP00000345719.4:p.Leu153Met
ENST00000473604.2:n.567T>A
NM_000113.2:c.457T>A NP_000104.1:p.Leu153Met
XR_929731.1:n.617T>A
XR_929731.3:n.485T>A
NM_000113.3:c.457T>A MANE Select NP_000104.1:p.Leu153Met