Canonical Allele Identifier: CA5278538
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 852503
ClinVar RCV Id: RCV001057121
dbSNP Id: rs201368848
ExAC: 9:132576481 A / C
gnomAD v2: 9-132576481-A-C
gnomAD v3: 9-129814202-A-C
gnomAD v4: 9-129814202-A-C
MyVariant Identifiers: chr9:g.132576481A>C (hg19) chr9:g.129814202A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814202A>C , CM000671.2:g.129814202A>C GRCh38
NC_000009.11:g.132576481A>C , CM000671.1:g.132576481A>C GRCh37
NC_000009.10:g.131616302A>C NCBI36
NG_008049.1:g.14961T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.769T>G MANE Select ENSP00000345719.4:p.Leu257Val
ENST00000651202.1:c.*37T>G ENSP00000498222.1:n.*37T>G
ENST00000351698.4:c.769T>G ENSP00000345719.4:p.Leu257Val
ENST00000474192.1:n.353T>G
NM_000113.2:c.769T>G NP_000104.1:p.Leu257Val
XR_929731.1:n.1096T>G
XR_929731.3:n.964T>G
NM_000113.3:c.769T>G MANE Select NP_000104.1:p.Leu257Val
Search 100 bp 5'
Search 100 bp 3'