Canonical Allele Identifier: CA200535241
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs769753875
gnomAD v2: 9-132581422-C-T
gnomAD v3: 9-129819143-C-T
gnomAD v4: 9-129819143-C-T
MyVariant Identifiers: chr9:g.132581422C>T (hg19) chr9:g.129819143C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819143C>T , CM000671.2:g.129819143C>T GRCh38
NC_000009.11:g.132581422C>T , CM000671.1:g.132581422C>T GRCh37
NC_000009.10:g.131621243C>T NCBI36
NG_008049.1:g.10020G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-223G>A MANE Select ENSP00000345719.4:n.445-223G>A
ENST00000651202.1:c.541-223G>A ENSP00000498222.1:n.541-223G>A
ENST00000351698.4:c.445-223G>A ENSP00000345719.4:n.445-223G>A
ENST00000473604.2:n.555-223G>A
NM_000113.2:c.445-223G>A NP_000104.1:n.445-223G>A
XR_929731.1:n.605-223G>A
XR_929731.3:n.473-223G>A
NM_000113.3:c.445-223G>A MANE Select NP_000104.1:n.445-223G>A
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