Canonical Allele Identifier: CA375199394
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129818910-T-G
MyVariant Identifiers: chr9:g.132581189T>G (hg19) chr9:g.129818910T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818910T>G , CM000671.2:g.129818910T>G GRCh38
NC_000009.11:g.132581189T>G , CM000671.1:g.132581189T>G GRCh37
NC_000009.10:g.131621010T>G NCBI36
NG_008049.1:g.10253A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.455A>C MANE Select ENSP00000345719.4:p.Gln152Pro
ENST00000651202.1:c.551A>C ENSP00000498222.1:p.Gln184Pro
ENST00000351698.4:c.455A>C ENSP00000345719.4:p.Gln152Pro
ENST00000473604.2:n.565A>C
NM_000113.2:c.455A>C NP_000104.1:p.Gln152Pro
XR_929731.1:n.615A>C
XR_929731.3:n.483A>C
NM_000113.3:c.455A>C MANE Select NP_000104.1:p.Gln152Pro
Search 100 bp 5'
Search 100 bp 3'