Canonical Allele Identifier: CA2692045408
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813756-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813756G>T , CM000671.2:g.129813756G>T GRCh38
NC_000009.11:g.132576035G>T , CM000671.1:g.132576035G>T GRCh37
NC_000009.10:g.131615856G>T NCBI36
NG_008049.1:g.15407C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*216C>A MANE Select ENSP00000345719.4:n.*216C>A
ENST00000651202.1:c.*483C>A ENSP00000498222.1:n.*483C>A
ENST00000351698.4:c.*216C>A ENSP00000345719.4:n.*216C>A
ENST00000474192.1:n.799C>A
NM_000113.2:c.*216C>A NP_000104.1:n.*216C>A
XR_929731.3:n.1410C>A
NM_000113.3:c.*216C>A MANE Select NP_000104.1:n.*216C>A
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