Canonical Allele Identifier: CA2720628705
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2131001498
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814330T>G , CM000671.2:g.129814330T>G GRCh38
NC_000009.11:g.132576609T>G , CM000671.1:g.132576609T>G GRCh37
NC_000009.10:g.131616430T>G NCBI36
NG_008049.1:g.14833A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-108A>C MANE Select ENSP00000345719.4:n.749-108A>C
ENST00000651202.1:c.*17-108A>C ENSP00000498222.1:n.*17-108A>C
ENST00000351698.4:c.749-108A>C ENSP00000345719.4:n.749-108A>C
ENST00000474192.1:n.333-108A>C
NM_000113.2:c.749-108A>C NP_000104.1:n.749-108A>C
XR_929731.1:n.1076-108A>C
XR_929731.3:n.944-108A>C
NM_000113.3:c.749-108A>C MANE Select NP_000104.1:n.749-108A>C
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