Canonical Allele Identifier: CA200533663
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs368307911
gnomAD v2: 9-132576240-A-C
gnomAD v3: 9-129813961-A-C
gnomAD v4: 9-129813961-A-C
MyVariant Identifiers: chr9:g.132576240A>C (hg19) chr9:g.129813961A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813961A>C , CM000671.2:g.129813961A>C GRCh38
NC_000009.11:g.132576240A>C , CM000671.1:g.132576240A>C GRCh37
NC_000009.10:g.131616061A>C NCBI36
NG_008049.1:g.15202T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*11T>G MANE Select ENSP00000345719.4:n.*11T>G
ENST00000651202.1:c.*278T>G ENSP00000498222.1:n.*278T>G
ENST00000351698.4:c.*11T>G ENSP00000345719.4:n.*11T>G
ENST00000474192.1:n.594T>G
NM_000113.2:c.*11T>G NP_000104.1:n.*11T>G
XR_929731.3:n.1205T>G
NM_000113.3:c.*11T>G MANE Select NP_000104.1:n.*11T>G
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