Canonical Allele Identifier: CA375197449
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814022T>G , CM000671.2:g.129814022T>G GRCh38
NC_000009.11:g.132576301T>G , CM000671.1:g.132576301T>G GRCh37
NC_000009.10:g.131616122T>G NCBI36
NG_008049.1:g.15141A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.949A>C MANE Select ENSP00000345719.4:p.Lys317Gln
ENST00000651202.1:c.*217A>C ENSP00000498222.1:n.*217A>C
ENST00000351698.4:c.949A>C ENSP00000345719.4:p.Lys317Gln
ENST00000474192.1:n.533A>C
NM_000113.2:c.949A>C NP_000104.1:p.Lys317Gln
XR_929731.3:n.1144A>C
NM_000113.3:c.949A>C MANE Select NP_000104.1:p.Lys317Gln