Canonical Allele Identifier: CA5278510
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs201785707
ExAC: 9:132576345 T / G
gnomAD v2: 9-132576345-T-G
gnomAD v3: 9-129814066-T-G
gnomAD v4: 9-129814066-T-G
MyVariant Identifiers: chr9:g.132576345T>G (hg19) chr9:g.129814066T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814066T>G , CM000671.2:g.129814066T>G GRCh38
NC_000009.11:g.132576345T>G , CM000671.1:g.132576345T>G GRCh37
NC_000009.10:g.131616166T>G NCBI36
NG_008049.1:g.15097A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.905A>C MANE Select ENSP00000345719.4:p.Glu302Ala
ENST00000651202.1:c.*173A>C ENSP00000498222.1:n.*173A>C
ENST00000351698.4:c.905A>C ENSP00000345719.4:p.Glu302Ala
ENST00000474192.1:n.489A>C
NM_000113.2:c.905A>C NP_000104.1:p.Glu302Ala
XR_929731.1:n.1232A>C
XR_929731.3:n.1100A>C
NM_000113.3:c.905A>C MANE Select NP_000104.1:p.Glu302Ala
Search 100 bp 5'
Search 100 bp 3'