Canonical Allele Identifier: CA390668153
Gene: TRIP11 HGNC NCBI
ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92039575C>A , CM000676.2:g.92039575C>A GRCh38
NC_000014.8:g.92505919C>A , CM000676.1:g.92505919C>A GRCh37
NC_000014.7:g.91575672C>A NCBI36
NG_008198.2:g.72047G>T
NG_016970.1:g.5485G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.111G>T (TRIP11) MANE Select ENSP00000267622.4:p.Met37Ile
ENST00000555105.1:n.443G>T (TRIP11)
ENST00000555516.6:c.-345+1305G>T (TRIP11) ENSP00000451944.1:n.-345+1305G>T
ENST00000558190.5:c.*24745G>T (ATXN3) ENSP00000478320.1:n.*24745G>T
NM_004239.3:c.111G>T (TRIP11) NP_004230.2:p.Met37Ile
XM_005268215.2:c.111G>T (TRIP11) XP_005268272.1:p.Met37Ile
XM_006720321.2:c.111G>T (TRIP11) XP_006720384.1:p.Met37Ile
XM_011537361.1:c.111G>T (TRIP11) XP_011535663.1:p.Met37Ile
XR_943560.1:n.566G>T (TRIP11)
NM_001321851.1:c.111G>T (TRIP11) NP_001308780.1:p.Met37Ile
NM_004239.4:c.111G>T (TRIP11) MANE Select NP_004230.2:p.Met37Ile
XM_017021787.2:c.-636G>T (TRIP11) XP_016877276.1:n.-636G>T
XM_017021788.2:c.-1088G>T (TRIP11) XP_016877277.1:n.-1088G>T
XR_001750598.2:n.560G>T (TRIP11)
XR_943560.2:n.560G>T (TRIP11)