Canonical Allele Identifier: CA265632128

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92081055G>T , CM000676.2:g.92081055G>T	GRCh38
NC_000014.8:g.92547399G>T , CM000676.1:g.92547399G>T	GRCh37
NC_000014.7:g.91617152G>T	NCBI36
NG_008198.2:g.30567C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*456C>A	ENSP00000352324.5:n.*456C>A
ENST00000515746.6:c.*241C>A	ENSP00000422073.1:n.*241C>A
ENST00000554672.6:c.245C>A	ENSP00000451417.2:p.Ser82Tyr
ENST00000556082.6:c.*282+2071C>A	ENSP00000450492.1:n.*282+2071C>A
ENST00000556315.6:c.*456C>A	ENSP00000451132.1:n.*456C>A
ENST00000557030.6:c.580C>A	ENSP00000452139.1:p.Pro194Thr
ENST00000557311.6:c.245C>A	ENSP00000450642.2:p.Ser82Tyr
ENST00000644486.2:c.782C>A MANE Select	ENSP00000496695.1:p.Ser261Tyr
ENST00000646485.1:c.241C>A	ENSP00000496590.1:p.Pro81Thr
ENST00000647161.1:c.782C>A	ENSP00000493680.1:p.Ser261Tyr
ENST00000340660.10:c.617C>A	ENSP00000339110.6:p.Ser206Tyr
ENST00000359366.9:c.*456C>A	ENSP00000352324.5:n.*456C>A
ENST00000393287.9:c.629C>A	ENSP00000376965.6:p.Ser210Tyr
ENST00000429774.6:c.572C>A	ENSP00000389376.3:p.Ser191Tyr
ENST00000502250.5:c.245C>A	ENSP00000425322.1:p.Ser82Tyr
ENST00000503767.5:c.737C>A	ENSP00000426697.1:p.Ser246Tyr
ENST00000506466.5:c.584C>A	ENSP00000435571.1:p.Ser195Tyr
ENST00000515746.5:c.*241C>A	ENSP00000422073.1:n.*241C>A
ENST00000526245.1:n.116+7713C>A
ENST00000532032.5:c.782C>A	ENSP00000437157.1:p.Ser261Tyr
ENST00000545170.5:c.782C>A	ENSP00000445618.2:p.Ser261Tyr
ENST00000553287.5:n.508C>A
ENST00000553309.5:n.804C>A
ENST00000553488.5:c.*543C>A	ENSP00000452461.1:n.*543C>A
ENST00000553491.5:c.629C>A	ENSP00000451996.1:p.Ser210Tyr
ENST00000553498.5:n.651C>A
ENST00000553570.5:c.*241C>A	ENSP00000451405.1:n.*241C>A
ENST00000553686.5:n.651C>A
ENST00000554040.5:n.386C>A
ENST00000554214.5:n.553C>A
ENST00000554350.5:c.*382C>A	ENSP00000451103.1:n.*382C>A
ENST00000554491.5:n.804C>A
ENST00000554592.5:c.779C>A	ENSP00000451385.1:p.Ser260Tyr
ENST00000554672.5:c.488C>A	ENSP00000451417.1:p.Ser163Tyr
ENST00000554673.5:c.*383C>A	ENSP00000452356.1:n.*383C>A
ENST00000554994.5:c.*241C>A	ENSP00000451771.1:n.*241C>A
ENST00000555381.5:c.572C>A	ENSP00000451001.1:p.Ser191Tyr
ENST00000555816.5:c.*289C>A	ENSP00000451910.1:n.*289C>A
ENST00000555958.5:n.639C>A
ENST00000556082.5:c.*282+2071C>A	ENSP00000450492.1:n.*282+2071C>A
ENST00000556220.5:c.464C>A	ENSP00000450641.1:p.Ser155Tyr
ENST00000556274.5:c.*433C>A	ENSP00000451733.1:n.*433C>A
ENST00000556288.5:c.*433C>A	ENSP00000450566.1:n.*433C>A
ENST00000556315.5:c.*456C>A	ENSP00000451132.1:n.*456C>A
ENST00000556339.5:n.410-10002C>A
ENST00000556374.5:c.*456C>A	ENSP00000451399.1:n.*456C>A
ENST00000556644.5:n.257-10002C>A
ENST00000556671.5:c.*360C>A	ENSP00000451693.1:n.*360C>A
ENST00000556898.5:c.*279C>A	ENSP00000451769.1:n.*279C>A
ENST00000556958.5:c.*241C>A	ENSP00000452532.1:n.*241C>A
ENST00000557030.5:c.580C>A	ENSP00000452139.1:p.Pro194Thr
ENST00000557311.5:c.245C>A	ENSP00000450642.1:p.Ser82Tyr
ENST00000558190.5:c.782C>A	ENSP00000478320.1:p.Ser261Tyr
ENST00000617719.4:c.782C>A	ENSP00000481998.1:p.Ser261Tyr
ENST00000620536.4:c.782C>A	ENSP00000484016.1:p.Ser261Tyr
ENST00000621269.4:c.782C>A	ENSP00000481390.1:p.Ser261Tyr
NM_001127696.1:c.737C>A	NP_001121168.1:p.Ser246Tyr
NM_001127697.2:c.629C>A	NP_001121169.2:p.Ser210Tyr
NM_001164774.1:c.190-10002C>A	NP_001158246.1:n.190-10002C>A
NM_001164776.1:c.235-10002C>A	NP_001158248.1:n.235-10002C>A
NM_001164777.1:c.70-10002C>A	NP_001158249.1:n.70-10002C>A
NM_001164778.1:c.388-10002C>A	NP_001158250.1:n.388-10002C>A
NM_001164779.1:c.419C>A	NP_001158251.1:p.Ser140Tyr
NM_001164780.1:c.245C>A	NP_001158252.1:p.Ser82Tyr
NM_001164781.1:c.572C>A	NP_001158253.1:p.Ser191Tyr
NM_001164782.1:c.25-10002C>A	NP_001158254.1:n.25-10002C>A
NM_004993.5:c.782C>A	NP_004984.2:p.Ser261Tyr
NM_030660.4:c.617C>A	NP_109376.1:p.Ser206Tyr
NR_028453.1:n.765C>A
NR_028454.1:n.600C>A
NR_028455.1:n.765C>A
NR_028456.1:n.600C>A
NR_028457.1:n.856C>A
NR_028458.1:n.742C>A
NR_028459.1:n.851C>A
NR_028460.1:n.371-10002C>A
NR_028461.1:n.763C>A
NR_028462.1:n.742C>A
NR_028463.1:n.400C>A
NR_028464.1:n.698C>A
NR_028465.1:n.720C>A
NR_028466.1:n.400C>A
NR_028467.1:n.766C>A
NR_028468.1:n.598C>A
NR_028469.1:n.600C>A
NR_028470.1:n.161-10002C>A
NR_031765.1:n.267C>A
NM_001127696.2:c.737C>A	NP_001121168.1:p.Ser246Tyr
NM_001164774.2:c.190-10002C>A	NP_001158246.1:n.190-10002C>A
NM_001164776.2:c.235-10002C>A	NP_001158248.1:n.235-10002C>A
NM_001164777.2:c.70-10002C>A	NP_001158249.1:n.70-10002C>A
NM_001164778.2:c.388-10002C>A	NP_001158250.1:n.388-10002C>A
NM_001164779.2:c.419C>A	NP_001158251.1:p.Ser140Tyr
NM_001164780.2:c.245C>A	NP_001158252.1:p.Ser82Tyr
NM_001164782.2:c.25-10002C>A	NP_001158254.1:n.25-10002C>A
NM_004993.6:c.782C>A MANE Select	NP_004984.2:p.Ser261Tyr
NM_030660.5:c.617C>A	NP_109376.1:p.Ser206Tyr
NR_028453.2:n.726C>A
NR_028454.2:n.561C>A
NR_028455.2:n.726C>A
NR_028456.2:n.561C>A
NR_028457.2:n.817C>A
NR_028458.2:n.703C>A
NR_028459.2:n.812C>A
NR_028460.2:n.332-10002C>A
NR_028461.2:n.724C>A
NR_028462.2:n.703C>A
NR_028463.2:n.361C>A
NR_028464.2:n.659C>A
NR_028465.2:n.681C>A
NR_028466.2:n.361C>A
NR_028467.2:n.727C>A
NR_028468.2:n.559C>A
NR_028469.2:n.561C>A
NR_028470.2:n.122-10002C>A
NR_031765.2:n.228C>A
NM_001127697.3:c.629C>A	NP_001121169.2:p.Ser210Tyr
NM_001164781.2:c.572C>A	NP_001158253.1:p.Ser191Tyr