Canonical Allele Identifier: CA5278526

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 695773
• ClinVar RCV Id: RCV001167586 ; RCV002064437 ; RCV002538902 ; RCV003169094
• dbSNP Id: rs148036363
• ExAC: 9:132576427 T / C
• gnomAD v2: 9-132576427-T-C
• gnomAD v3: 9-129814148-T-C
• gnomAD v4: 9-129814148-T-C
• MyVariant Identifiers: chr9:g.132576427T>C (hg19) ; chr9:g.129814148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814148T>C , CM000671.2:g.129814148T>C	GRCh38
NC_000009.11:g.132576427T>C , CM000671.1:g.132576427T>C	GRCh37
NC_000009.10:g.131616248T>C	NCBI36
NG_008049.1:g.15015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.823A>G MANE Select	ENSP00000345719.4:p.Lys275Glu
ENST00000651202.1:c.*91A>G	ENSP00000498222.1:n.*91A>G
ENST00000351698.4:c.823A>G	ENSP00000345719.4:p.Lys275Glu
ENST00000474192.1:n.407A>G
NM_000113.2:c.823A>G	NP_000104.1:p.Lys275Glu
XR_929731.1:n.1150A>G
XR_929731.3:n.1018A>G
NM_000113.3:c.823A>G MANE Select	NP_000104.1:p.Lys275Glu