Canonical Allele Identifier: CA590684993
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1303572942

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813731G>C , CM000671.2:g.129813731G>C GRCh38
NC_000009.11:g.132576010G>C , CM000671.1:g.132576010G>C GRCh37
NC_000009.10:g.131615831G>C NCBI36
NG_008049.1:g.15432C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*241C>G MANE Select ENSP00000345719.4:n.*241C>G
ENST00000651202.1:c.*508C>G ENSP00000498222.1:n.*508C>G
ENST00000351698.4:c.*241C>G ENSP00000345719.4:n.*241C>G
ENST00000474192.1:n.824C>G
NM_000113.2:c.*241C>G NP_000104.1:n.*241C>G
XR_929731.3:n.1435C>G
NM_000113.3:c.*241C>G MANE Select NP_000104.1:n.*241C>G