Canonical Allele Identifier: CA7314566

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92083151C>T , CM000676.2:g.92083151C>T	GRCh38
NC_000014.8:g.92549495C>T , CM000676.1:g.92549495C>T	GRCh37
NC_000014.7:g.91619248C>T	NCBI36
NG_008198.2:g.28471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*257G>A	ENSP00000352324.5:n.*257G>A
ENST00000515746.6:c.*42G>A	ENSP00000422073.1:n.*42G>A
ENST00000526872.3:c.455G>A
ENST00000554672.6:c.46G>A	ENSP00000451417.2:p.Glu16Lys
ENST00000556082.6:c.*257G>A	ENSP00000450492.1:n.*257G>A
ENST00000556315.6:c.*257G>A	ENSP00000451132.1:n.*257G>A
ENST00000557030.6:c.385G>A	ENSP00000452139.1:p.Glu129Lys
ENST00000557311.6:c.46G>A	ENSP00000450642.2:p.Glu16Lys
ENST00000644486.2:c.583G>A MANE Select	ENSP00000496695.1:p.Glu195Lys
ENST00000646485.1:c.46G>A	ENSP00000496590.1:p.Glu16Lys
ENST00000647161.1:c.583G>A	ENSP00000493680.1:p.Glu195Lys
ENST00000340660.10:c.418G>A	ENSP00000339110.6:p.Glu140Lys
ENST00000359366.9:c.*257G>A	ENSP00000352324.5:n.*257G>A
ENST00000393287.9:c.430G>A	ENSP00000376965.6:p.Glu144Lys
ENST00000429774.6:c.373G>A	ENSP00000389376.3:p.Glu125Lys
ENST00000502250.5:c.46G>A	ENSP00000425322.1:p.Glu16Lys
ENST00000503767.5:c.538G>A	ENSP00000426697.1:p.Glu180Lys
ENST00000506466.5:c.385G>A	ENSP00000435571.1:p.Glu129Lys
ENST00000515746.5:c.*42G>A	ENSP00000422073.1:n.*42G>A
ENST00000526245.1:n.116+5617G>A
ENST00000526872.2:c.448G>A	ENSP00000474067.1:p.Glu150Lys
ENST00000532032.5:c.583G>A	ENSP00000437157.1:p.Glu195Lys
ENST00000545170.5:c.583G>A	ENSP00000445618.2:p.Glu195Lys
ENST00000553287.5:n.309G>A
ENST00000553309.5:n.605G>A
ENST00000553488.5:c.*344G>A	ENSP00000452461.1:n.*344G>A
ENST00000553491.5:c.430G>A	ENSP00000451996.1:p.Glu144Lys
ENST00000553498.5:n.452G>A
ENST00000553570.5:c.*42G>A	ENSP00000451405.1:n.*42G>A
ENST00000553686.5:n.452G>A
ENST00000554040.5:n.354G>A
ENST00000554214.5:n.354G>A
ENST00000554350.5:c.*183G>A	ENSP00000451103.1:n.*183G>A
ENST00000554491.5:n.605G>A
ENST00000554592.5:c.580G>A	ENSP00000451385.1:p.Glu194Lys
ENST00000554672.5:c.289G>A	ENSP00000451417.1:p.Glu97Lys
ENST00000554673.5:c.*184G>A	ENSP00000452356.1:n.*184G>A
ENST00000554994.5:c.*42G>A	ENSP00000451771.1:n.*42G>A
ENST00000555381.5:c.373G>A	ENSP00000451001.1:p.Glu125Lys
ENST00000555816.5:c.*257G>A	ENSP00000451910.1:n.*257G>A
ENST00000555958.5:n.440G>A
ENST00000556082.5:c.*257G>A	ENSP00000450492.1:n.*257G>A
ENST00000556220.5:c.265G>A	ENSP00000450641.1:p.Glu89Lys
ENST00000556274.5:c.*234G>A	ENSP00000451733.1:n.*234G>A
ENST00000556288.5:c.*234G>A	ENSP00000450566.1:n.*234G>A
ENST00000556315.5:c.*257G>A	ENSP00000451132.1:n.*257G>A
ENST00000556339.5:n.409+10101G>A
ENST00000556374.5:c.*257G>A	ENSP00000451399.1:n.*257G>A
ENST00000556644.5:n.257-12098G>A
ENST00000556671.5:c.*161G>A	ENSP00000451693.1:n.*161G>A
ENST00000556898.5:c.*80G>A	ENSP00000451769.1:n.*80G>A
ENST00000556958.5:c.*42G>A	ENSP00000452532.1:n.*42G>A
ENST00000557030.5:c.385G>A	ENSP00000452139.1:p.Glu129Lys
ENST00000557311.5:c.46G>A	ENSP00000450642.1:p.Glu16Lys
ENST00000558190.5:c.583G>A	ENSP00000478320.1:p.Glu195Lys
ENST00000617719.4:c.583G>A	ENSP00000481998.1:p.Glu195Lys
ENST00000620536.4:c.583G>A	ENSP00000484016.1:p.Glu195Lys
ENST00000621269.4:c.583G>A	ENSP00000481390.1:p.Glu195Lys
NM_001127696.1:c.538G>A	NP_001121168.1:p.Glu180Lys
NM_001127697.2:c.430G>A	NP_001121169.2:p.Glu144Lys
NM_001164774.1:c.190-12098G>A	NP_001158246.1:n.190-12098G>A
NM_001164776.1:c.235-12098G>A	NP_001158248.1:n.235-12098G>A
NM_001164777.1:c.70-12098G>A	NP_001158249.1:n.70-12098G>A
NM_001164778.1:c.387+10101G>A	NP_001158250.1:n.387+10101G>A
NM_001164779.1:c.220G>A	NP_001158251.1:p.Glu74Lys
NM_001164780.1:c.46G>A	NP_001158252.1:p.Glu16Lys
NM_001164781.1:c.373G>A	NP_001158253.1:p.Glu125Lys
NM_001164782.1:c.25-12098G>A	NP_001158254.1:n.25-12098G>A
NM_004993.5:c.583G>A	NP_004984.2:p.Glu195Lys
NM_030660.4:c.418G>A	NP_109376.1:p.Glu140Lys
NR_028453.1:n.566G>A
NR_028454.1:n.401G>A
NR_028455.1:n.566G>A
NR_028456.1:n.401G>A
NR_028457.1:n.657G>A
NR_028458.1:n.543G>A
NR_028459.1:n.652G>A
NR_028460.1:n.370+10101G>A
NR_028461.1:n.564G>A
NR_028462.1:n.543G>A
NR_028463.1:n.201G>A
NR_028464.1:n.499G>A
NR_028465.1:n.521G>A
NR_028466.1:n.201G>A
NR_028467.1:n.567G>A
NR_028468.1:n.566G>A
NR_028469.1:n.401G>A
NR_028470.1:n.160+10101G>A
NR_031765.1:n.94-685G>A
NM_001127696.2:c.538G>A	NP_001121168.1:p.Glu180Lys
NM_001164774.2:c.190-12098G>A	NP_001158246.1:n.190-12098G>A
NM_001164776.2:c.235-12098G>A	NP_001158248.1:n.235-12098G>A
NM_001164777.2:c.70-12098G>A	NP_001158249.1:n.70-12098G>A
NM_001164778.2:c.387+10101G>A	NP_001158250.1:n.387+10101G>A
NM_001164779.2:c.220G>A	NP_001158251.1:p.Glu74Lys
NM_001164780.2:c.46G>A	NP_001158252.1:p.Glu16Lys
NM_001164782.2:c.25-12098G>A	NP_001158254.1:n.25-12098G>A
NM_004993.6:c.583G>A MANE Select	NP_004984.2:p.Glu195Lys
NM_030660.5:c.418G>A	NP_109376.1:p.Glu140Lys
NR_028453.2:n.527G>A
NR_028454.2:n.362G>A
NR_028455.2:n.527G>A
NR_028456.2:n.362G>A
NR_028457.2:n.618G>A
NR_028458.2:n.504G>A
NR_028459.2:n.613G>A
NR_028460.2:n.331+10101G>A
NR_028461.2:n.525G>A
NR_028462.2:n.504G>A
NR_028463.2:n.162G>A
NR_028464.2:n.460G>A
NR_028465.2:n.482G>A
NR_028466.2:n.162G>A
NR_028467.2:n.528G>A
NR_028468.2:n.527G>A
NR_028469.2:n.362G>A
NR_028470.2:n.121+10101G>A
NR_031765.2:n.55-685G>A
NM_001127697.3:c.430G>A	NP_001121169.2:p.Glu144Lys
NM_001164781.2:c.373G>A	NP_001158253.1:p.Glu125Lys