Canonical Allele Identifier: CA390655191

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92082432C>G , CM000676.2:g.92082432C>G	GRCh38
NC_000014.8:g.92548776C>G , CM000676.1:g.92548776C>G	GRCh37
NC_000014.7:g.91618529C>G	NCBI36
NG_008198.2:g.29190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*317G>C	ENSP00000352324.5:n.*317G>C
ENST00000515746.6:c.*102G>C	ENSP00000422073.1:n.*102G>C
ENST00000526872.3:c.515G>C
ENST00000554672.6:c.106G>C	ENSP00000451417.2:p.Ala36Pro
ENST00000556082.6:c.*282+694G>C	ENSP00000450492.1:n.*282+694G>C
ENST00000556315.6:c.*317G>C	ENSP00000451132.1:n.*317G>C
ENST00000557030.6:c.445G>C	ENSP00000452139.1:p.Ala149Pro
ENST00000557311.6:c.106G>C	ENSP00000450642.2:p.Ala36Pro
ENST00000644486.2:c.643G>C MANE Select	ENSP00000496695.1:p.Ala215Pro
ENST00000646485.1:c.106G>C	ENSP00000496590.1:p.Ala36Pro
ENST00000647161.1:c.643G>C	ENSP00000493680.1:p.Ala215Pro
ENST00000340660.10:c.478G>C	ENSP00000339110.6:p.Ala160Pro
ENST00000359366.9:c.*317G>C	ENSP00000352324.5:n.*317G>C
ENST00000393287.9:c.490G>C	ENSP00000376965.6:p.Ala164Pro
ENST00000429774.6:c.433G>C	ENSP00000389376.3:p.Ala145Pro
ENST00000502250.5:c.106G>C	ENSP00000425322.1:p.Ala36Pro
ENST00000503767.5:c.598G>C	ENSP00000426697.1:p.Ala200Pro
ENST00000506466.5:c.445G>C	ENSP00000435571.1:p.Ala149Pro
ENST00000515746.5:c.*102G>C	ENSP00000422073.1:n.*102G>C
ENST00000526245.1:n.116+6336G>C
ENST00000526872.2:c.508G>C	ENSP00000474067.1:p.Ala170Pro
ENST00000532032.5:c.643G>C	ENSP00000437157.1:p.Ala215Pro
ENST00000545170.5:c.643G>C	ENSP00000445618.2:p.Ala215Pro
ENST00000553287.5:n.369G>C
ENST00000553309.5:n.665G>C
ENST00000553488.5:c.*404G>C	ENSP00000452461.1:n.*404G>C
ENST00000553491.5:c.490G>C	ENSP00000451996.1:p.Ala164Pro
ENST00000553498.5:n.512G>C
ENST00000553570.5:c.*102G>C	ENSP00000451405.1:n.*102G>C
ENST00000553686.5:n.512G>C
ENST00000554040.5:n.379+694G>C
ENST00000554214.5:n.414G>C
ENST00000554350.5:c.*243G>C	ENSP00000451103.1:n.*243G>C
ENST00000554491.5:n.665G>C
ENST00000554592.5:c.640G>C	ENSP00000451385.1:p.Ala214Pro
ENST00000554672.5:c.349G>C	ENSP00000451417.1:p.Ala117Pro
ENST00000554673.5:c.*244G>C	ENSP00000452356.1:n.*244G>C
ENST00000554994.5:c.*102G>C	ENSP00000451771.1:n.*102G>C
ENST00000555381.5:c.433G>C	ENSP00000451001.1:p.Ala145Pro
ENST00000555816.5:c.*282+694G>C	ENSP00000451910.1:n.*282+694G>C
ENST00000555958.5:n.500G>C
ENST00000556082.5:c.*282+694G>C	ENSP00000450492.1:n.*282+694G>C
ENST00000556220.5:c.325G>C	ENSP00000450641.1:p.Ala109Pro
ENST00000556274.5:c.*294G>C	ENSP00000451733.1:n.*294G>C
ENST00000556288.5:c.*294G>C	ENSP00000450566.1:n.*294G>C
ENST00000556315.5:c.*317G>C	ENSP00000451132.1:n.*317G>C
ENST00000556339.5:n.409+10820G>C
ENST00000556374.5:c.*317G>C	ENSP00000451399.1:n.*317G>C
ENST00000556644.5:n.257-11379G>C
ENST00000556671.5:c.*221G>C	ENSP00000451693.1:n.*221G>C
ENST00000556898.5:c.*140G>C	ENSP00000451769.1:n.*140G>C
ENST00000556958.5:c.*102G>C	ENSP00000452532.1:n.*102G>C
ENST00000557030.5:c.445G>C	ENSP00000452139.1:p.Ala149Pro
ENST00000557311.5:c.106G>C	ENSP00000450642.1:p.Ala36Pro
ENST00000558190.5:c.643G>C	ENSP00000478320.1:p.Ala215Pro
ENST00000617719.4:c.643G>C	ENSP00000481998.1:p.Ala215Pro
ENST00000620536.4:c.643G>C	ENSP00000484016.1:p.Ala215Pro
ENST00000621269.4:c.643G>C	ENSP00000481390.1:p.Ala215Pro
NM_001127696.1:c.598G>C	NP_001121168.1:p.Ala200Pro
NM_001127697.2:c.490G>C	NP_001121169.2:p.Ala164Pro
NM_001164774.1:c.190-11379G>C	NP_001158246.1:n.190-11379G>C
NM_001164776.1:c.235-11379G>C	NP_001158248.1:n.235-11379G>C
NM_001164777.1:c.70-11379G>C	NP_001158249.1:n.70-11379G>C
NM_001164778.1:c.387+10820G>C	NP_001158250.1:n.387+10820G>C
NM_001164779.1:c.280G>C	NP_001158251.1:p.Ala94Pro
NM_001164780.1:c.106G>C	NP_001158252.1:p.Ala36Pro
NM_001164781.1:c.433G>C	NP_001158253.1:p.Ala145Pro
NM_001164782.1:c.25-11379G>C	NP_001158254.1:n.25-11379G>C
NM_004993.5:c.643G>C	NP_004984.2:p.Ala215Pro
NM_030660.4:c.478G>C	NP_109376.1:p.Ala160Pro
NR_028453.1:n.626G>C
NR_028454.1:n.461G>C
NR_028455.1:n.626G>C
NR_028456.1:n.461G>C
NR_028457.1:n.717G>C
NR_028458.1:n.603G>C
NR_028459.1:n.712G>C
NR_028460.1:n.370+10820G>C
NR_028461.1:n.624G>C
NR_028462.1:n.603G>C
NR_028463.1:n.261G>C
NR_028464.1:n.559G>C
NR_028465.1:n.581G>C
NR_028466.1:n.261G>C
NR_028467.1:n.627G>C
NR_028468.1:n.591+694G>C
NR_028469.1:n.461G>C
NR_028470.1:n.160+10820G>C
NR_031765.1:n.128G>C
NM_001127696.2:c.598G>C	NP_001121168.1:p.Ala200Pro
NM_001164774.2:c.190-11379G>C	NP_001158246.1:n.190-11379G>C
NM_001164776.2:c.235-11379G>C	NP_001158248.1:n.235-11379G>C
NM_001164777.2:c.70-11379G>C	NP_001158249.1:n.70-11379G>C
NM_001164778.2:c.387+10820G>C	NP_001158250.1:n.387+10820G>C
NM_001164779.2:c.280G>C	NP_001158251.1:p.Ala94Pro
NM_001164780.2:c.106G>C	NP_001158252.1:p.Ala36Pro
NM_001164782.2:c.25-11379G>C	NP_001158254.1:n.25-11379G>C
NM_004993.6:c.643G>C MANE Select	NP_004984.2:p.Ala215Pro
NM_030660.5:c.478G>C	NP_109376.1:p.Ala160Pro
NR_028453.2:n.587G>C
NR_028454.2:n.422G>C
NR_028455.2:n.587G>C
NR_028456.2:n.422G>C
NR_028457.2:n.678G>C
NR_028458.2:n.564G>C
NR_028459.2:n.673G>C
NR_028460.2:n.331+10820G>C
NR_028461.2:n.585G>C
NR_028462.2:n.564G>C
NR_028463.2:n.222G>C
NR_028464.2:n.520G>C
NR_028465.2:n.542G>C
NR_028466.2:n.222G>C
NR_028467.2:n.588G>C
NR_028468.2:n.552+694G>C
NR_028469.2:n.422G>C
NR_028470.2:n.121+10820G>C
NR_031765.2:n.89G>C
NM_001127697.3:c.490G>C	NP_001121169.2:p.Ala164Pro
NM_001164781.2:c.433G>C	NP_001158253.1:p.Ala145Pro