Canonical Allele Identifier: CA7314536

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92082403T>G , CM000676.2:g.92082403T>G	GRCh38
NC_000014.8:g.92548747T>G , CM000676.1:g.92548747T>G	GRCh37
NC_000014.7:g.91618500T>G	NCBI36
NG_008198.2:g.29219A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*346A>C	ENSP00000352324.5:n.*346A>C
ENST00000515746.6:c.*131A>C	ENSP00000422073.1:n.*131A>C
ENST00000526872.3:c.544A>C
ENST00000554672.6:c.135A>C	ENSP00000451417.2:p.Glu45Asp
ENST00000556082.6:c.*282+723A>C	ENSP00000450492.1:n.*282+723A>C
ENST00000556315.6:c.*346A>C	ENSP00000451132.1:n.*346A>C
ENST00000557030.6:c.474A>C	ENSP00000452139.1:p.Glu158Asp
ENST00000557311.6:c.135A>C	ENSP00000450642.2:p.Glu45Asp
ENST00000644486.2:c.672A>C MANE Select	ENSP00000496695.1:p.Glu224Asp
ENST00000646485.1:c.135A>C	ENSP00000496590.1:p.Glu45Asp
ENST00000647161.1:c.672A>C	ENSP00000493680.1:p.Glu224Asp
ENST00000340660.10:c.507A>C	ENSP00000339110.6:p.Glu169Asp
ENST00000359366.9:c.*346A>C	ENSP00000352324.5:n.*346A>C
ENST00000393287.9:c.519A>C	ENSP00000376965.6:p.Glu173Asp
ENST00000429774.6:c.462A>C	ENSP00000389376.3:p.Glu154Asp
ENST00000502250.5:c.135A>C	ENSP00000425322.1:p.Glu45Asp
ENST00000503767.5:c.627A>C	ENSP00000426697.1:p.Glu209Asp
ENST00000506466.5:c.474A>C	ENSP00000435571.1:p.Glu158Asp
ENST00000515746.5:c.*131A>C	ENSP00000422073.1:n.*131A>C
ENST00000526245.1:n.116+6365A>C
ENST00000526872.2:c.537A>C	ENSP00000474067.1:p.Glu179Asp
ENST00000532032.5:c.672A>C	ENSP00000437157.1:p.Glu224Asp
ENST00000545170.5:c.672A>C	ENSP00000445618.2:p.Glu224Asp
ENST00000553287.5:n.398A>C
ENST00000553309.5:n.694A>C
ENST00000553488.5:c.*433A>C	ENSP00000452461.1:n.*433A>C
ENST00000553491.5:c.519A>C	ENSP00000451996.1:p.Glu173Asp
ENST00000553498.5:n.541A>C
ENST00000553570.5:c.*131A>C	ENSP00000451405.1:n.*131A>C
ENST00000553686.5:n.541A>C
ENST00000554040.5:n.379+723A>C
ENST00000554214.5:n.443A>C
ENST00000554350.5:c.*272A>C	ENSP00000451103.1:n.*272A>C
ENST00000554491.5:n.694A>C
ENST00000554592.5:c.669A>C	ENSP00000451385.1:p.Glu223Asp
ENST00000554672.5:c.378A>C	ENSP00000451417.1:p.Glu126Asp
ENST00000554673.5:c.*273A>C	ENSP00000452356.1:n.*273A>C
ENST00000554994.5:c.*131A>C	ENSP00000451771.1:n.*131A>C
ENST00000555381.5:c.462A>C	ENSP00000451001.1:p.Glu154Asp
ENST00000555816.5:c.*282+723A>C	ENSP00000451910.1:n.*282+723A>C
ENST00000555958.5:n.529A>C
ENST00000556082.5:c.*282+723A>C	ENSP00000450492.1:n.*282+723A>C
ENST00000556220.5:c.354A>C	ENSP00000450641.1:p.Glu118Asp
ENST00000556274.5:c.*323A>C	ENSP00000451733.1:n.*323A>C
ENST00000556288.5:c.*323A>C	ENSP00000450566.1:n.*323A>C
ENST00000556315.5:c.*346A>C	ENSP00000451132.1:n.*346A>C
ENST00000556339.5:n.409+10849A>C
ENST00000556374.5:c.*346A>C	ENSP00000451399.1:n.*346A>C
ENST00000556644.5:n.257-11350A>C
ENST00000556671.5:c.*250A>C	ENSP00000451693.1:n.*250A>C
ENST00000556898.5:c.*169A>C	ENSP00000451769.1:n.*169A>C
ENST00000556958.5:c.*131A>C	ENSP00000452532.1:n.*131A>C
ENST00000557030.5:c.474A>C	ENSP00000452139.1:p.Glu158Asp
ENST00000557311.5:c.135A>C	ENSP00000450642.1:p.Glu45Asp
ENST00000558190.5:c.672A>C	ENSP00000478320.1:p.Glu224Asp
ENST00000617719.4:c.672A>C	ENSP00000481998.1:p.Glu224Asp
ENST00000620536.4:c.672A>C	ENSP00000484016.1:p.Glu224Asp
ENST00000621269.4:c.672A>C	ENSP00000481390.1:p.Glu224Asp
NM_001127696.1:c.627A>C	NP_001121168.1:p.Glu209Asp
NM_001127697.2:c.519A>C	NP_001121169.2:p.Glu173Asp
NM_001164774.1:c.190-11350A>C	NP_001158246.1:n.190-11350A>C
NM_001164776.1:c.235-11350A>C	NP_001158248.1:n.235-11350A>C
NM_001164777.1:c.70-11350A>C	NP_001158249.1:n.70-11350A>C
NM_001164778.1:c.387+10849A>C	NP_001158250.1:n.387+10849A>C
NM_001164779.1:c.309A>C	NP_001158251.1:p.Glu103Asp
NM_001164780.1:c.135A>C	NP_001158252.1:p.Glu45Asp
NM_001164781.1:c.462A>C	NP_001158253.1:p.Glu154Asp
NM_001164782.1:c.25-11350A>C	NP_001158254.1:n.25-11350A>C
NM_004993.5:c.672A>C	NP_004984.2:p.Glu224Asp
NM_030660.4:c.507A>C	NP_109376.1:p.Glu169Asp
NR_028453.1:n.655A>C
NR_028454.1:n.490A>C
NR_028455.1:n.655A>C
NR_028456.1:n.490A>C
NR_028457.1:n.746A>C
NR_028458.1:n.632A>C
NR_028459.1:n.741A>C
NR_028460.1:n.370+10849A>C
NR_028461.1:n.653A>C
NR_028462.1:n.632A>C
NR_028463.1:n.290A>C
NR_028464.1:n.588A>C
NR_028465.1:n.610A>C
NR_028466.1:n.290A>C
NR_028467.1:n.656A>C
NR_028468.1:n.591+723A>C
NR_028469.1:n.490A>C
NR_028470.1:n.160+10849A>C
NR_031765.1:n.157A>C
NM_001127696.2:c.627A>C	NP_001121168.1:p.Glu209Asp
NM_001164774.2:c.190-11350A>C	NP_001158246.1:n.190-11350A>C
NM_001164776.2:c.235-11350A>C	NP_001158248.1:n.235-11350A>C
NM_001164777.2:c.70-11350A>C	NP_001158249.1:n.70-11350A>C
NM_001164778.2:c.387+10849A>C	NP_001158250.1:n.387+10849A>C
NM_001164779.2:c.309A>C	NP_001158251.1:p.Glu103Asp
NM_001164780.2:c.135A>C	NP_001158252.1:p.Glu45Asp
NM_001164782.2:c.25-11350A>C	NP_001158254.1:n.25-11350A>C
NM_004993.6:c.672A>C MANE Select	NP_004984.2:p.Glu224Asp
NM_030660.5:c.507A>C	NP_109376.1:p.Glu169Asp
NR_028453.2:n.616A>C
NR_028454.2:n.451A>C
NR_028455.2:n.616A>C
NR_028456.2:n.451A>C
NR_028457.2:n.707A>C
NR_028458.2:n.593A>C
NR_028459.2:n.702A>C
NR_028460.2:n.331+10849A>C
NR_028461.2:n.614A>C
NR_028462.2:n.593A>C
NR_028463.2:n.251A>C
NR_028464.2:n.549A>C
NR_028465.2:n.571A>C
NR_028466.2:n.251A>C
NR_028467.2:n.617A>C
NR_028468.2:n.552+723A>C
NR_028469.2:n.451A>C
NR_028470.2:n.121+10849A>C
NR_031765.2:n.118A>C
NM_001127697.3:c.519A>C	NP_001121169.2:p.Glu173Asp
NM_001164781.2:c.462A>C	NP_001158253.1:p.Glu154Asp