Canonical Allele Identifier: CA2692045977
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129819056-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819056C>A , CM000671.2:g.129819056C>A GRCh38
NC_000009.11:g.132581335C>A , CM000671.1:g.132581335C>A GRCh37
NC_000009.10:g.131621156C>A NCBI36
NG_008049.1:g.10107G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-136G>T MANE Select ENSP00000345719.4:n.445-136G>T
ENST00000651202.1:c.541-136G>T ENSP00000498222.1:n.541-136G>T
ENST00000351698.4:c.445-136G>T ENSP00000345719.4:n.445-136G>T
ENST00000473604.2:n.555-136G>T
NM_000113.2:c.445-136G>T NP_000104.1:n.445-136G>T
XR_929731.1:n.605-136G>T
XR_929731.3:n.473-136G>T
NM_000113.3:c.445-136G>T MANE Select NP_000104.1:n.445-136G>T
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