Canonical Allele Identifier: CA5278790

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 365238
• ClinVar RCV Id: RCV000264783 ; RCV001698509
• dbSNP Id: rs114150156
• ExAC: 9:132586416 A / C
• gnomAD v2: 9-132586416-A-C
• gnomAD v3: 9-129824137-A-C
• gnomAD v4: 9-129824137-A-C
• MyVariant Identifiers: chr9:g.132586416A>C (hg19) ; chr9:g.129824137A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129824137A>C , CM000671.2:g.129824137A>C	GRCh38
NC_000009.11:g.132586416A>C , CM000671.1:g.132586416A>C	GRCh37
NC_000009.10:g.131626237A>C	NCBI36
NG_008049.1:g.5026T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651202.1:c.45T>G	ENSP00000498222.1:p.Ala15=
NM_000113.2:c.-52T>G	NP_000104.1:n.-52T>G
XR_929731.1:n.109T>G