Canonical Allele Identifier: CA200533580
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs991415542

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813721T>C , CM000671.2:g.129813721T>C GRCh38
NC_000009.11:g.132576000T>C , CM000671.1:g.132576000T>C GRCh37
NC_000009.10:g.131615821T>C NCBI36
NG_008049.1:g.15442A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*251A>G MANE Select ENSP00000345719.4:n.*251A>G
ENST00000651202.1:c.*518A>G ENSP00000498222.1:n.*518A>G
ENST00000351698.4:c.*251A>G ENSP00000345719.4:n.*251A>G
ENST00000474192.1:n.834A>G
NM_000113.2:c.*251A>G NP_000104.1:n.*251A>G
XR_929731.3:n.1445A>G
NM_000113.3:c.*251A>G MANE Select NP_000104.1:n.*251A>G