Canonical Allele Identifier: CA7314319
Gene: TRIP11 HGNC NCBI
ATXN3 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.92039644C>T
GRCh37 chr14:g.92505988C>T
gnomAD v2:
14:92505988 C / T
gnomAD v3:
14:92039644 C / T
gnomAD v4:
chr14-92039644-C-T
Joint Max Group AF 0.00166274 (AFR)
Genomes Max Group AF 0.00160503 (AFR)
Exomes Max Group AF 0.00151018 (AFR)
ClinVar Allele:
754214
ClinVar RCV:
RCV001478177
ClinVar Variation:
735909
dbSNP:
61740833
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92039644C>T , CM000676.2:g.92039644C>T GRCh38
NC_000014.8:g.92505988C>T , CM000676.1:g.92505988C>T GRCh37
NC_000014.7:g.91575741C>T NCBI36
NG_008198.2:g.71978G>A
NG_016970.1:g.5416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.42G>A (TRIP11) MANE Select ENSP00000267622.4:p.Gln14=
ENST00000555105.1:n.374G>A (TRIP11)
ENST00000555516.6:c.-345+1236G>A (TRIP11) ENSP00000451944.1:n.-345+1236G>A
ENST00000558190.5:c.*24676G>A (ATXN3) ENSP00000478320.1:n.*24676G>A
NM_004239.3:c.42G>A (TRIP11) NP_004230.2:p.Gln14=
XM_005268215.2:c.42G>A (TRIP11) XP_005268272.1:p.Gln14=
XM_006720321.2:c.42G>A (TRIP11) XP_006720384.1:p.Gln14=
XM_011537361.1:c.42G>A (TRIP11) XP_011535663.1:p.Gln14=
XR_943560.1:n.497G>A (TRIP11)
NM_001321851.1:c.42G>A (TRIP11) NP_001308780.1:p.Gln14=
NM_004239.4:c.42G>A (TRIP11) MANE Select NP_004230.2:p.Gln14=
XM_017021787.2:c.-705G>A (TRIP11) XP_016877276.1:n.-705G>A
XM_017021788.2:c.-1157G>A (TRIP11) XP_016877277.1:n.-1157G>A
XR_001750598.2:n.491G>A (TRIP11)
XR_943560.2:n.491G>A (TRIP11)
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