Canonical Allele Identifier: CA2692045527
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813875-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813875T>G , CM000671.2:g.129813875T>G GRCh38
NC_000009.11:g.132576154T>G , CM000671.1:g.132576154T>G GRCh37
NC_000009.10:g.131615975T>G NCBI36
NG_008049.1:g.15288A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*97A>C MANE Select ENSP00000345719.4:n.*97A>C
ENST00000651202.1:c.*364A>C ENSP00000498222.1:n.*364A>C
ENST00000351698.4:c.*97A>C ENSP00000345719.4:n.*97A>C
ENST00000474192.1:n.680A>C
NM_000113.2:c.*97A>C NP_000104.1:n.*97A>C
XR_929731.3:n.1291A>C
NM_000113.3:c.*97A>C MANE Select NP_000104.1:n.*97A>C
Search 100 bp 5'
Search 100 bp 3'