Canonical Allele Identifier: CA375199410
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581196G>A (hg19) chr9:g.129818917G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818917G>A , CM000671.2:g.129818917G>A GRCh38
NC_000009.11:g.132581196G>A , CM000671.1:g.132581196G>A GRCh37
NC_000009.10:g.131621017G>A NCBI36
NG_008049.1:g.10246C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.448C>T MANE Select ENSP00000345719.4:p.Gln150Ter
ENST00000651202.1:c.544C>T ENSP00000498222.1:p.Gln182Ter
ENST00000351698.4:c.448C>T ENSP00000345719.4:p.Gln150Ter
ENST00000473604.2:n.558C>T
NM_000113.2:c.448C>T NP_000104.1:p.Gln150Ter
XR_929731.1:n.608C>T
XR_929731.3:n.476C>T
NM_000113.3:c.448C>T MANE Select NP_000104.1:p.Gln150Ter
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