Canonical Allele Identifier: CA5278699

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 268213
• ClinVar RCV Id: RCV000258924 ; RCV000487817 ; RCV002059065
• dbSNP Id: rs199535970
• ExAC: 9:132584943 C / T
• gnomAD v2: 9-132584943-C-T
• gnomAD v3: 9-129822664-C-T
• gnomAD v4: 9-129822664-C-T
• COSMIC: COSM1314556
• MyVariant Identifiers: chr9:g.132584943C>T (hg19) ; chr9:g.129822664C>T (hg38)
• PubMed: PMID:20301665

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