Canonical Allele Identifier: CA10646621
Gene: TRIP11 HGNC NCBI
ATXN3 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.92039952T>C
GRCh37 chr14:g.92506296T>C
gnomAD v2:
14:92506296 T / C
gnomAD v3:
14:92039952 T / C
gnomAD v4:
chr14-92039952-T-C
Joint Max Group AF 0.00004176 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00003801 (NFE)
ClinVar RCV:
RCV000337905
ClinVar Variation:
314988
dbSNP:
886050912
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92039952T>C , CM000676.2:g.92039952T>C GRCh38
NC_000014.8:g.92506296T>C , CM000676.1:g.92506296T>C GRCh37
NC_000014.7:g.91576049T>C NCBI36
NG_008198.2:g.71670A>G
NG_016970.1:g.5108A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.-267A>G (TRIP11) MANE Select ENSP00000267622.4:n.-267A>G
ENST00000555105.1:n.66A>G (TRIP11)
ENST00000555516.6:c.-345+928A>G (TRIP11) ENSP00000451944.1:n.-345+928A>G
ENST00000558190.5:c.*24368A>G (ATXN3) ENSP00000478320.1:n.*24368A>G
NM_004239.3:c.-267A>G (TRIP11) NP_004230.2:n.-267A>G
XM_005268215.2:c.-267A>G (TRIP11) XP_005268272.1:n.-267A>G
XM_006720321.2:c.-267A>G (TRIP11) XP_006720384.1:n.-267A>G
XM_011537361.1:c.-267A>G (TRIP11) XP_011535663.1:n.-267A>G
XR_943560.1:n.189A>G (TRIP11)
NM_001321851.1:c.-267A>G (TRIP11) NP_001308780.1:n.-267A>G
NM_004239.4:c.-267A>G (TRIP11) MANE Select NP_004230.2:n.-267A>G
XM_017021787.2:c.-1013A>G (TRIP11) XP_016877276.1:n.-1013A>G
XM_017021788.2:c.-1465A>G (TRIP11) XP_016877277.1:n.-1465A>G
XR_001750598.2:n.183A>G (TRIP11)
XR_943560.2:n.183A>G (TRIP11)
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