Canonical Allele Identifier: CA200533565
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs563498119
gnomAD v3: 9-129813670-A-T
gnomAD v4: 9-129813670-A-T
MyVariant Identifiers: chr9:g.132575949A>T (hg19) chr9:g.129813670A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813670A>T , CM000671.2:g.129813670A>T GRCh38
NC_000009.11:g.132575949A>T , CM000671.1:g.132575949A>T GRCh37
NC_000009.10:g.131615770A>T NCBI36
NG_008049.1:g.15493T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*302T>A MANE Select ENSP00000345719.4:n.*302T>A
ENST00000651202.1:c.*569T>A ENSP00000498222.1:n.*569T>A
ENST00000351698.4:c.*302T>A ENSP00000345719.4:n.*302T>A
ENST00000474192.1:n.885T>A
NM_000113.2:c.*302T>A NP_000104.1:n.*302T>A
XR_929731.3:n.1496T>A
NM_000113.3:c.*302T>A MANE Select NP_000104.1:n.*302T>A
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