Canonical Allele Identifier: CA2579478300
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814298-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814298C>T , CM000671.2:g.129814298C>T GRCh38
NC_000009.11:g.132576577C>T , CM000671.1:g.132576577C>T GRCh37
NC_000009.10:g.131616398C>T NCBI36
NG_008049.1:g.14865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-76G>A MANE Select ENSP00000345719.4:n.749-76G>A
ENST00000651202.1:c.*17-76G>A ENSP00000498222.1:n.*17-76G>A
ENST00000351698.4:c.749-76G>A ENSP00000345719.4:n.749-76G>A
ENST00000474192.1:n.333-76G>A
NM_000113.2:c.749-76G>A NP_000104.1:n.749-76G>A
XR_929731.1:n.1076-76G>A
XR_929731.3:n.944-76G>A
NM_000113.3:c.749-76G>A MANE Select NP_000104.1:n.749-76G>A
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