Canonical Allele Identifier: CA2692045346
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813682-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813682A>G , CM000671.2:g.129813682A>G GRCh38
NC_000009.11:g.132575961A>G , CM000671.1:g.132575961A>G GRCh37
NC_000009.10:g.131615782A>G NCBI36
NG_008049.1:g.15481T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*290T>C MANE Select ENSP00000345719.4:n.*290T>C
ENST00000651202.1:c.*557T>C ENSP00000498222.1:n.*557T>C
ENST00000351698.4:c.*290T>C ENSP00000345719.4:n.*290T>C
ENST00000474192.1:n.873T>C
NM_000113.2:c.*290T>C NP_000104.1:n.*290T>C
XR_929731.3:n.1484T>C
NM_000113.3:c.*290T>C MANE Select NP_000104.1:n.*290T>C
Search 100 bp 5'
Search 100 bp 3'