Canonical Allele Identifier: CA7314544

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92082431G>A , CM000676.2:g.92082431G>A	GRCh38
NC_000014.8:g.92548775G>A , CM000676.1:g.92548775G>A	GRCh37
NC_000014.7:g.91618528G>A	NCBI36
NG_008198.2:g.29191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*318C>T	ENSP00000352324.5:n.*318C>T
ENST00000515746.6:c.*103C>T	ENSP00000422073.1:n.*103C>T
ENST00000526872.3:c.516C>T
ENST00000554672.6:c.107C>T	ENSP00000451417.2:p.Ala36Val
ENST00000556082.6:c.*282+695C>T	ENSP00000450492.1:n.*282+695C>T
ENST00000556315.6:c.*318C>T	ENSP00000451132.1:n.*318C>T
ENST00000557030.6:c.446C>T	ENSP00000452139.1:p.Ala149Val
ENST00000557311.6:c.107C>T	ENSP00000450642.2:p.Ala36Val
ENST00000644486.2:c.644C>T MANE Select	ENSP00000496695.1:p.Ala215Val
ENST00000646485.1:c.107C>T	ENSP00000496590.1:p.Ala36Val
ENST00000647161.1:c.644C>T	ENSP00000493680.1:p.Ala215Val
ENST00000340660.10:c.479C>T	ENSP00000339110.6:p.Ala160Val
ENST00000359366.9:c.*318C>T	ENSP00000352324.5:n.*318C>T
ENST00000393287.9:c.491C>T	ENSP00000376965.6:p.Ala164Val
ENST00000429774.6:c.434C>T	ENSP00000389376.3:p.Ala145Val
ENST00000502250.5:c.107C>T	ENSP00000425322.1:p.Ala36Val
ENST00000503767.5:c.599C>T	ENSP00000426697.1:p.Ala200Val
ENST00000506466.5:c.446C>T	ENSP00000435571.1:p.Ala149Val
ENST00000515746.5:c.*103C>T	ENSP00000422073.1:n.*103C>T
ENST00000526245.1:n.116+6337C>T
ENST00000526872.2:c.509C>T	ENSP00000474067.1:p.Ala170Val
ENST00000532032.5:c.644C>T	ENSP00000437157.1:p.Ala215Val
ENST00000545170.5:c.644C>T	ENSP00000445618.2:p.Ala215Val
ENST00000553287.5:n.370C>T
ENST00000553309.5:n.666C>T
ENST00000553488.5:c.*405C>T	ENSP00000452461.1:n.*405C>T
ENST00000553491.5:c.491C>T	ENSP00000451996.1:p.Ala164Val
ENST00000553498.5:n.513C>T
ENST00000553570.5:c.*103C>T	ENSP00000451405.1:n.*103C>T
ENST00000553686.5:n.513C>T
ENST00000554040.5:n.379+695C>T
ENST00000554214.5:n.415C>T
ENST00000554350.5:c.*244C>T	ENSP00000451103.1:n.*244C>T
ENST00000554491.5:n.666C>T
ENST00000554592.5:c.641C>T	ENSP00000451385.1:p.Ala214Val
ENST00000554672.5:c.350C>T	ENSP00000451417.1:p.Ala117Val
ENST00000554673.5:c.*245C>T	ENSP00000452356.1:n.*245C>T
ENST00000554994.5:c.*103C>T	ENSP00000451771.1:n.*103C>T
ENST00000555381.5:c.434C>T	ENSP00000451001.1:p.Ala145Val
ENST00000555816.5:c.*282+695C>T	ENSP00000451910.1:n.*282+695C>T
ENST00000555958.5:n.501C>T
ENST00000556082.5:c.*282+695C>T	ENSP00000450492.1:n.*282+695C>T
ENST00000556220.5:c.326C>T	ENSP00000450641.1:p.Ala109Val
ENST00000556274.5:c.*295C>T	ENSP00000451733.1:n.*295C>T
ENST00000556288.5:c.*295C>T	ENSP00000450566.1:n.*295C>T
ENST00000556315.5:c.*318C>T	ENSP00000451132.1:n.*318C>T
ENST00000556339.5:n.409+10821C>T
ENST00000556374.5:c.*318C>T	ENSP00000451399.1:n.*318C>T
ENST00000556644.5:n.257-11378C>T
ENST00000556671.5:c.*222C>T	ENSP00000451693.1:n.*222C>T
ENST00000556898.5:c.*141C>T	ENSP00000451769.1:n.*141C>T
ENST00000556958.5:c.*103C>T	ENSP00000452532.1:n.*103C>T
ENST00000557030.5:c.446C>T	ENSP00000452139.1:p.Ala149Val
ENST00000557311.5:c.107C>T	ENSP00000450642.1:p.Ala36Val
ENST00000558190.5:c.644C>T	ENSP00000478320.1:p.Ala215Val
ENST00000617719.4:c.644C>T	ENSP00000481998.1:p.Ala215Val
ENST00000620536.4:c.644C>T	ENSP00000484016.1:p.Ala215Val
ENST00000621269.4:c.644C>T	ENSP00000481390.1:p.Ala215Val
NM_001127696.1:c.599C>T	NP_001121168.1:p.Ala200Val
NM_001127697.2:c.491C>T	NP_001121169.2:p.Ala164Val
NM_001164774.1:c.190-11378C>T	NP_001158246.1:n.190-11378C>T
NM_001164776.1:c.235-11378C>T	NP_001158248.1:n.235-11378C>T
NM_001164777.1:c.70-11378C>T	NP_001158249.1:n.70-11378C>T
NM_001164778.1:c.387+10821C>T	NP_001158250.1:n.387+10821C>T
NM_001164779.1:c.281C>T	NP_001158251.1:p.Ala94Val
NM_001164780.1:c.107C>T	NP_001158252.1:p.Ala36Val
NM_001164781.1:c.434C>T	NP_001158253.1:p.Ala145Val
NM_001164782.1:c.25-11378C>T	NP_001158254.1:n.25-11378C>T
NM_004993.5:c.644C>T	NP_004984.2:p.Ala215Val
NM_030660.4:c.479C>T	NP_109376.1:p.Ala160Val
NR_028453.1:n.627C>T
NR_028454.1:n.462C>T
NR_028455.1:n.627C>T
NR_028456.1:n.462C>T
NR_028457.1:n.718C>T
NR_028458.1:n.604C>T
NR_028459.1:n.713C>T
NR_028460.1:n.370+10821C>T
NR_028461.1:n.625C>T
NR_028462.1:n.604C>T
NR_028463.1:n.262C>T
NR_028464.1:n.560C>T
NR_028465.1:n.582C>T
NR_028466.1:n.262C>T
NR_028467.1:n.628C>T
NR_028468.1:n.591+695C>T
NR_028469.1:n.462C>T
NR_028470.1:n.160+10821C>T
NR_031765.1:n.129C>T
NM_001127696.2:c.599C>T	NP_001121168.1:p.Ala200Val
NM_001164774.2:c.190-11378C>T	NP_001158246.1:n.190-11378C>T
NM_001164776.2:c.235-11378C>T	NP_001158248.1:n.235-11378C>T
NM_001164777.2:c.70-11378C>T	NP_001158249.1:n.70-11378C>T
NM_001164778.2:c.387+10821C>T	NP_001158250.1:n.387+10821C>T
NM_001164779.2:c.281C>T	NP_001158251.1:p.Ala94Val
NM_001164780.2:c.107C>T	NP_001158252.1:p.Ala36Val
NM_001164782.2:c.25-11378C>T	NP_001158254.1:n.25-11378C>T
NM_004993.6:c.644C>T MANE Select	NP_004984.2:p.Ala215Val
NM_030660.5:c.479C>T	NP_109376.1:p.Ala160Val
NR_028453.2:n.588C>T
NR_028454.2:n.423C>T
NR_028455.2:n.588C>T
NR_028456.2:n.423C>T
NR_028457.2:n.679C>T
NR_028458.2:n.565C>T
NR_028459.2:n.674C>T
NR_028460.2:n.331+10821C>T
NR_028461.2:n.586C>T
NR_028462.2:n.565C>T
NR_028463.2:n.223C>T
NR_028464.2:n.521C>T
NR_028465.2:n.543C>T
NR_028466.2:n.223C>T
NR_028467.2:n.589C>T
NR_028468.2:n.552+695C>T
NR_028469.2:n.423C>T
NR_028470.2:n.121+10821C>T
NR_031765.2:n.90C>T
NM_001127697.3:c.491C>T	NP_001121169.2:p.Ala164Val
NM_001164781.2:c.434C>T	NP_001158253.1:p.Ala145Val