Canonical Allele Identifier: CA1880972087
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs997431119
gnomAD v3: 9-129814296-T-A
gnomAD v4: 9-129814296-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814296T>A , CM000671.2:g.129814296T>A GRCh38
NC_000009.11:g.132576575T>A , CM000671.1:g.132576575T>A GRCh37
NC_000009.10:g.131616396T>A NCBI36
NG_008049.1:g.14867A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-74A>T MANE Select ENSP00000345719.4:n.749-74A>T
ENST00000651202.1:c.*17-74A>T ENSP00000498222.1:n.*17-74A>T
ENST00000351698.4:c.749-74A>T ENSP00000345719.4:n.749-74A>T
ENST00000474192.1:n.333-74A>T
NM_000113.2:c.749-74A>T NP_000104.1:n.749-74A>T
XR_929731.1:n.1076-74A>T
XR_929731.3:n.944-74A>T
NM_000113.3:c.749-74A>T MANE Select NP_000104.1:n.749-74A>T
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