Canonical Allele Identifier: CA5278699
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 268213
dbSNP Id: rs199535970

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129822664C>T , CM000671.2:g.129822664C>T GRCh38
NC_000009.11:g.132584943C>T , CM000671.1:g.132584943C>T GRCh37
NC_000009.10:g.131624764C>T NCBI36
NG_008049.1:g.6499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.361G>A MANE Select ENSP00000345719.4:p.Glu121Lys
ENST00000651202.1:c.457G>A ENSP00000498222.1:p.Glu153Lys
ENST00000351698.4:c.361G>A ENSP00000345719.4:p.Glu121Lys
ENST00000473084.1:n.380G>A
ENST00000473604.2:n.471G>A
NM_000113.2:c.361G>A NP_000104.1:p.Glu121Lys
XR_929731.1:n.521G>A
XR_929731.3:n.389G>A
NM_000113.3:c.361G>A MANE Select NP_000104.1:p.Glu121Lys