Canonical Allele Identifier: CA5278643
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs772781837
ExAC: 9:132581199 C / A
gnomAD v2: 9-132581199-C-A
gnomAD v4: 9-129818920-C-A
MyVariant Identifiers: chr9:g.132581199C>A (hg19) chr9:g.129818920C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818920C>A , CM000671.2:g.129818920C>A GRCh38
NC_000009.11:g.132581199C>A , CM000671.1:g.132581199C>A GRCh37
NC_000009.10:g.131621020C>A NCBI36
NG_008049.1:g.10243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445G>T MANE Select ENSP00000345719.4:p.Asp149Tyr
ENST00000651202.1:c.541G>T ENSP00000498222.1:p.Asp181Tyr
ENST00000351698.4:c.445G>T ENSP00000345719.4:p.Asp149Tyr
ENST00000473604.2:n.555G>T
NM_000113.2:c.445G>T NP_000104.1:p.Asp149Tyr
XR_929731.1:n.605G>T
XR_929731.3:n.473G>T
NM_000113.3:c.445G>T MANE Select NP_000104.1:p.Asp149Tyr
Search 100 bp 5'
Search 100 bp 3'