Canonical Allele Identifier: CA1264143
Gene: TOR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179085780G>A , CM000663.2:g.179085780G>A GRCh38
NC_000001.10:g.179054915G>A , CM000663.1:g.179054915G>A GRCh37
NC_000001.9:g.177321538G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367627.8:c.526G>A MANE Select ENSP00000356599.3:p.Val176Met
ENST00000352445.10:c.526G>A ENSP00000335351.6:p.Val176Met
ENST00000367625.8:c.385G>A ENSP00000356597.4:p.Val129Met
ENST00000367627.7:c.526G>A ENSP00000356599.3:p.Val176Met
ENST00000447595.1:c.202G>A ENSP00000410195.1:p.Val68Met
ENST00000472001.1:n.322-2131G>A
ENST00000483887.1:c.*453G>A ENSP00000435744.1:n.*453G>A
NM_022371.3:c.526G>A NP_071766.2:p.Val176Met
NM_022371.4:c.526G>A MANE Select NP_071766.2:p.Val176Met