Canonical Allele Identifier: CA200533817
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs997431119
MyVariant Identifiers: chr9:g.132576575T>C (hg19) chr9:g.129814296T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814296T>C , CM000671.2:g.129814296T>C GRCh38
NC_000009.11:g.132576575T>C , CM000671.1:g.132576575T>C GRCh37
NC_000009.10:g.131616396T>C NCBI36
NG_008049.1:g.14867A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-74A>G MANE Select ENSP00000345719.4:n.749-74A>G
ENST00000651202.1:c.*17-74A>G ENSP00000498222.1:n.*17-74A>G
ENST00000351698.4:c.749-74A>G ENSP00000345719.4:n.749-74A>G
ENST00000474192.1:n.333-74A>G
NM_000113.2:c.749-74A>G NP_000104.1:n.749-74A>G
XR_929731.1:n.1076-74A>G
XR_929731.3:n.944-74A>G
NM_000113.3:c.749-74A>G MANE Select NP_000104.1:n.749-74A>G
Search 100 bp 5'
Search 100 bp 3'