Canonical Allele Identifier: CA2692045593
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814266-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814266C>G , CM000671.2:g.129814266C>G GRCh38
NC_000009.11:g.132576545C>G , CM000671.1:g.132576545C>G GRCh37
NC_000009.10:g.131616366C>G NCBI36
NG_008049.1:g.14897G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-44G>C MANE Select ENSP00000345719.4:n.749-44G>C
ENST00000651202.1:c.*17-44G>C ENSP00000498222.1:n.*17-44G>C
ENST00000351698.4:c.749-44G>C ENSP00000345719.4:n.749-44G>C
ENST00000474192.1:n.333-44G>C
NM_000113.2:c.749-44G>C NP_000104.1:n.749-44G>C
XR_929731.1:n.1076-44G>C
XR_929731.3:n.944-44G>C
NM_000113.3:c.749-44G>C MANE Select NP_000104.1:n.749-44G>C
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