Canonical Allele Identifier: CA590685001
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1478098833
gnomAD v2: 9-132576155-C-A
gnomAD v3: 9-129813876-C-A
gnomAD v4: 9-129813876-C-A
MyVariant Identifiers: chr9:g.132576155C>A (hg19) chr9:g.129813876C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813876C>A , CM000671.2:g.129813876C>A GRCh38
NC_000009.11:g.132576155C>A , CM000671.1:g.132576155C>A GRCh37
NC_000009.10:g.131615976C>A NCBI36
NG_008049.1:g.15287G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*96G>T MANE Select ENSP00000345719.4:n.*96G>T
ENST00000651202.1:c.*363G>T ENSP00000498222.1:n.*363G>T
ENST00000351698.4:c.*96G>T ENSP00000345719.4:n.*96G>T
ENST00000474192.1:n.679G>T
NM_000113.2:c.*96G>T NP_000104.1:n.*96G>T
XR_929731.3:n.1290G>T
NM_000113.3:c.*96G>T MANE Select NP_000104.1:n.*96G>T
Search 100 bp 5'
Search 100 bp 3'