Canonical Allele Identifier: CA860375210
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1283002993
gnomAD v4: 9-129813615-A-C
MyVariant Identifiers: chr9:g.132575894A>C (hg19) chr9:g.129813615A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813615A>C , CM000671.2:g.129813615A>C GRCh38
NC_000009.11:g.132575894A>C , CM000671.1:g.132575894A>C GRCh37
NC_000009.10:g.131615715A>C NCBI36
NG_008049.1:g.15548T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*357T>G MANE Select ENSP00000345719.4:n.*357T>G
ENST00000651202.1:c.*624T>G ENSP00000498222.1:n.*624T>G
ENST00000351698.4:c.*357T>G ENSP00000345719.4:n.*357T>G
ENST00000474192.1:n.940T>G
NM_000113.2:c.*357T>G NP_000104.1:n.*357T>G
XR_929731.3:n.1551T>G
NM_000113.3:c.*357T>G MANE Select NP_000104.1:n.*357T>G
Search 100 bp 5'
Search 100 bp 3'