Canonical Allele Identifier: CA1880970849
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1588214488
gnomAD v3: 9-129813566-C-G
gnomAD v4: 9-129813566-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813566C>G , CM000671.2:g.129813566C>G GRCh38
NC_000009.11:g.132575845C>G , CM000671.1:g.132575845C>G GRCh37
NC_000009.10:g.131615666C>G NCBI36
NG_008049.1:g.15597G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*406G>C MANE Select ENSP00000345719.4:n.*406G>C
ENST00000651202.1:c.*673G>C ENSP00000498222.1:n.*673G>C
ENST00000351698.4:c.*406G>C ENSP00000345719.4:n.*406G>C
NM_000113.2:c.*406G>C NP_000104.1:n.*406G>C
XR_929731.3:n.1600G>C
NM_000113.3:c.*406G>C MANE Select NP_000104.1:n.*406G>C
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