Canonical Allele Identifier: CA590684995
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs559295198

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813762G>C , CM000671.2:g.129813762G>C GRCh38
NC_000009.11:g.132576041G>C , CM000671.1:g.132576041G>C GRCh37
NC_000009.10:g.131615862G>C NCBI36
NG_008049.1:g.15401C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*210C>G MANE Select ENSP00000345719.4:n.*210C>G
ENST00000651202.1:c.*477C>G ENSP00000498222.1:n.*477C>G
ENST00000351698.4:c.*210C>G ENSP00000345719.4:n.*210C>G
ENST00000474192.1:n.793C>G
NM_000113.2:c.*210C>G NP_000104.1:n.*210C>G
XR_929731.3:n.1404C>G
NM_000113.3:c.*210C>G MANE Select NP_000104.1:n.*210C>G