Canonical Allele Identifier: CA10626570
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 365223
ClinVar RCV Id: RCV000360107
dbSNP Id: rs186581792
gnomAD v2: 9-132575835-A-C
gnomAD v3: 9-129813556-A-C
gnomAD v4: 9-129813556-A-C
MyVariant Identifiers: chr9:g.132575835A>C (hg19) chr9:g.132575835_132575839delinsCACAC (hg19) chr9:g.129813556A>C (hg38) chr9:g.129813556_129813560delinsCACAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813556A>C , CM000671.2:g.129813556A>C GRCh38
NC_000009.11:g.132575835A>C , CM000671.1:g.132575835A>C GRCh37
NC_000009.10:g.131615656A>C NCBI36
NG_008049.1:g.15607T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*416T>G MANE Select ENSP00000345719.4:n.*416T>G
ENST00000651202.1:c.*683T>G ENSP00000498222.1:n.*683T>G
ENST00000351698.4:c.*416T>G ENSP00000345719.4:n.*416T>G
NM_000113.2:c.*416T>G NP_000104.1:n.*416T>G
XR_929731.3:n.1610T>G
NM_000113.3:c.*416T>G MANE Select NP_000104.1:n.*416T>G
Search 100 bp 5'
Search 100 bp 3'