Canonical Allele Identifier: CA590944208
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1400045572
gnomAD v2: 9-132581376-T-C
gnomAD v3: 9-129819097-T-C
gnomAD v4: 9-129819097-T-C
MyVariant Identifiers: chr9:g.132581376T>C (hg19) chr9:g.129819097T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819097T>C , CM000671.2:g.129819097T>C GRCh38
NC_000009.11:g.132581376T>C , CM000671.1:g.132581376T>C GRCh37
NC_000009.10:g.131621197T>C NCBI36
NG_008049.1:g.10066A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-177A>G MANE Select ENSP00000345719.4:n.445-177A>G
ENST00000651202.1:c.541-177A>G ENSP00000498222.1:n.541-177A>G
ENST00000351698.4:c.445-177A>G ENSP00000345719.4:n.445-177A>G
ENST00000473604.2:n.555-177A>G
NM_000113.2:c.445-177A>G NP_000104.1:n.445-177A>G
XR_929731.1:n.605-177A>G
XR_929731.3:n.473-177A>G
NM_000113.3:c.445-177A>G MANE Select NP_000104.1:n.445-177A>G
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