Canonical Allele Identifier: CA7314328
Community Standard Title: NM_004239.4(TRIP11):c.9C>T (p.Ser3=)
Gene: TRIP11 HGNC NCBI
ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92039677G>A , CM000676.2:g.92039677G>A GRCh38
NC_000014.8:g.92506021G>A , CM000676.1:g.92506021G>A GRCh37
NC_000014.7:g.91575774G>A NCBI36
NG_008198.2:g.71945C>T
NG_016970.1:g.5383C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.9C>T (TRIP11) MANE Select NP_004230.2:p.Ser3=
ENST00000267622.8:c.9C>T (TRIP11) MANE Select ENSP00000267622.4:p.Ser3=
NM_001321851.1:c.9C>T (TRIP11) NP_001308780.1:p.Ser3=
NM_004239.3:c.9C>T (TRIP11) NP_004230.2:p.Ser3=
ENST00000555105.1:n.341C>T (TRIP11)
ENST00000555516.6:c.-345+1203C>T (TRIP11) ENSP00000451944.1:n.-345+1203C>T
ENST00000558190.5:c.*24643C>T (ATXN3) ENSP00000478320.1:n.*24643C>T
XM_005268215.2:c.9C>T (TRIP11) XP_005268272.1:p.Ser3=
XM_006720321.2:c.9C>T (TRIP11) XP_006720384.1:p.Ser3=
XM_011537361.1:c.9C>T (TRIP11) XP_011535663.1:p.Ser3=
XM_017021787.2:c.-738C>T (TRIP11) XP_016877276.1:n.-738C>T
XM_017021788.2:c.-1190C>T (TRIP11) XP_016877277.1:n.-1190C>T
XR_001750598.2:n.458C>T (TRIP11)
XR_943560.1:n.464C>T (TRIP11)
XR_943560.2:n.458C>T (TRIP11)