Canonical Allele Identifier: CA2692045624
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814326-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814326C>T , CM000671.2:g.129814326C>T GRCh38
NC_000009.11:g.132576605C>T , CM000671.1:g.132576605C>T GRCh37
NC_000009.10:g.131616426C>T NCBI36
NG_008049.1:g.14837G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-104G>A MANE Select ENSP00000345719.4:n.749-104G>A
ENST00000651202.1:c.*17-104G>A ENSP00000498222.1:n.*17-104G>A
ENST00000351698.4:c.749-104G>A ENSP00000345719.4:n.749-104G>A
ENST00000474192.1:n.333-104G>A
NM_000113.2:c.749-104G>A NP_000104.1:n.749-104G>A
XR_929731.1:n.1076-104G>A
XR_929731.3:n.944-104G>A
NM_000113.3:c.749-104G>A MANE Select NP_000104.1:n.749-104G>A
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