Canonical Allele Identifier: CA860379072
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1420335155
gnomAD v3: 9-129819098-C-G
gnomAD v4: 9-129819098-C-G
MyVariant Identifiers: chr9:g.132581377C>G (hg19) chr9:g.129819098C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819098C>G , CM000671.2:g.129819098C>G GRCh38
NC_000009.11:g.132581377C>G , CM000671.1:g.132581377C>G GRCh37
NC_000009.10:g.131621198C>G NCBI36
NG_008049.1:g.10065G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-178G>C MANE Select ENSP00000345719.4:n.445-178G>C
ENST00000651202.1:c.541-178G>C ENSP00000498222.1:n.541-178G>C
ENST00000351698.4:c.445-178G>C ENSP00000345719.4:n.445-178G>C
ENST00000473604.2:n.555-178G>C
NM_000113.2:c.445-178G>C NP_000104.1:n.445-178G>C
XR_929731.1:n.605-178G>C
XR_929731.3:n.473-178G>C
NM_000113.3:c.445-178G>C MANE Select NP_000104.1:n.445-178G>C
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