Canonical Allele Identifier: CA2692045909
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129818953-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818953T>G , CM000671.2:g.129818953T>G GRCh38
NC_000009.11:g.132581232T>G , CM000671.1:g.132581232T>G GRCh37
NC_000009.10:g.131621053T>G NCBI36
NG_008049.1:g.10210A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-33A>C MANE Select ENSP00000345719.4:n.445-33A>C
ENST00000651202.1:c.541-33A>C ENSP00000498222.1:n.541-33A>C
ENST00000351698.4:c.445-33A>C ENSP00000345719.4:n.445-33A>C
ENST00000473604.2:n.555-33A>C
NM_000113.2:c.445-33A>C NP_000104.1:n.445-33A>C
XR_929731.1:n.605-33A>C
XR_929731.3:n.473-33A>C
NM_000113.3:c.445-33A>C MANE Select NP_000104.1:n.445-33A>C
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