Canonical Allele Identifier: CA5278489
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs776137125
ExAC: 9:132576214 A / G
gnomAD v2: 9-132576214-A-G
gnomAD v3: 9-129813935-A-G
gnomAD v4: 9-129813935-A-G
MyVariant Identifiers: chr9:g.132576214A>G (hg19) chr9:g.129813935A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813935A>G , CM000671.2:g.129813935A>G GRCh38
NC_000009.11:g.132576214A>G , CM000671.1:g.132576214A>G GRCh37
NC_000009.10:g.131616035A>G NCBI36
NG_008049.1:g.15228T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*37T>C MANE Select ENSP00000345719.4:n.*37T>C
ENST00000651202.1:c.*304T>C ENSP00000498222.1:n.*304T>C
ENST00000351698.4:c.*37T>C ENSP00000345719.4:n.*37T>C
ENST00000474192.1:n.620T>C
NM_000113.2:c.*37T>C NP_000104.1:n.*37T>C
XR_929731.3:n.1231T>C
NM_000113.3:c.*37T>C MANE Select NP_000104.1:n.*37T>C
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