Canonical Allele Identifier: CA1129452488
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030976772
gnomAD v3: 9-129814294-C-T
gnomAD v4: 9-129814294-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814294C>T , CM000671.2:g.129814294C>T GRCh38
NC_000009.11:g.132576573C>T , CM000671.1:g.132576573C>T GRCh37
NC_000009.10:g.131616394C>T NCBI36
NG_008049.1:g.14869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-72G>A MANE Select ENSP00000345719.4:n.749-72G>A
ENST00000651202.1:c.*17-72G>A ENSP00000498222.1:n.*17-72G>A
ENST00000351698.4:c.749-72G>A ENSP00000345719.4:n.749-72G>A
ENST00000474192.1:n.333-72G>A
NM_000113.2:c.749-72G>A NP_000104.1:n.749-72G>A
XR_929731.1:n.1076-72G>A
XR_929731.3:n.944-72G>A
NM_000113.3:c.749-72G>A MANE Select NP_000104.1:n.749-72G>A
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