Canonical Allele Identifier: CA590685887
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1433096826
gnomAD v2: 9-132581414-G-A
gnomAD v3: 9-129819135-G-A
gnomAD v4: 9-129819135-G-A
MyVariant Identifiers: chr9:g.132581414G>A (hg19) chr9:g.129819135G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819135G>A , CM000671.2:g.129819135G>A GRCh38
NC_000009.11:g.132581414G>A , CM000671.1:g.132581414G>A GRCh37
NC_000009.10:g.131621235G>A NCBI36
NG_008049.1:g.10028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-215C>T MANE Select ENSP00000345719.4:n.445-215C>T
ENST00000651202.1:c.541-215C>T ENSP00000498222.1:n.541-215C>T
ENST00000351698.4:c.445-215C>T ENSP00000345719.4:n.445-215C>T
ENST00000473604.2:n.555-215C>T
NM_000113.2:c.445-215C>T NP_000104.1:n.445-215C>T
XR_929731.1:n.605-215C>T
XR_929731.3:n.473-215C>T
NM_000113.3:c.445-215C>T MANE Select NP_000104.1:n.445-215C>T
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