Canonical Allele Identifier: CA7314506

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92081064G>A , CM000676.2:g.92081064G>A	GRCh38
NC_000014.8:g.92547408G>A , CM000676.1:g.92547408G>A	GRCh37
NC_000014.7:g.91617161G>A	NCBI36
NG_008198.2:g.30558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*450-3C>T	ENSP00000352324.5:n.*450-3C>T
ENST00000515746.6:c.*235-3C>T	ENSP00000422073.1:n.*235-3C>T
ENST00000554672.6:c.239-3C>T	ENSP00000451417.2:n.239-3C>T
ENST00000556082.6:c.*282+2062C>T	ENSP00000450492.1:n.*282+2062C>T
ENST00000556315.6:c.*450-3C>T	ENSP00000451132.1:n.*450-3C>T
ENST00000557030.6:c.578-7C>T	ENSP00000452139.1:n.578-7C>T
ENST00000557311.6:c.239-3C>T	ENSP00000450642.2:n.239-3C>T
ENST00000644486.2:c.776-3C>T MANE Select	ENSP00000496695.1:n.776-3C>T
ENST00000646485.1:c.239-7C>T	ENSP00000496590.1:n.239-7C>T
ENST00000647161.1:c.776-3C>T	ENSP00000493680.1:n.776-3C>T
ENST00000340660.10:c.611-3C>T	ENSP00000339110.6:n.611-3C>T
ENST00000359366.9:c.*450-3C>T	ENSP00000352324.5:n.*450-3C>T
ENST00000393287.9:c.623-3C>T	ENSP00000376965.6:n.623-3C>T
ENST00000429774.6:c.566-3C>T	ENSP00000389376.3:n.566-3C>T
ENST00000502250.5:c.239-3C>T	ENSP00000425322.1:n.239-3C>T
ENST00000503767.5:c.731-3C>T	ENSP00000426697.1:n.731-3C>T
ENST00000506466.5:c.578-3C>T	ENSP00000435571.1:n.578-3C>T
ENST00000515746.5:c.*235-3C>T	ENSP00000422073.1:n.*235-3C>T
ENST00000526245.1:n.116+7704C>T
ENST00000532032.5:c.776-3C>T	ENSP00000437157.1:n.776-3C>T
ENST00000545170.5:c.776-3C>T	ENSP00000445618.2:n.776-3C>T
ENST00000553287.5:n.502-3C>T
ENST00000553309.5:n.798-3C>T
ENST00000553488.5:c.*537-3C>T	ENSP00000452461.1:n.*537-3C>T
ENST00000553491.5:c.623-3C>T	ENSP00000451996.1:n.623-3C>T
ENST00000553498.5:n.645-3C>T
ENST00000553570.5:c.*235-3C>T	ENSP00000451405.1:n.*235-3C>T
ENST00000553686.5:n.645-3C>T
ENST00000554040.5:n.380-3C>T
ENST00000554214.5:n.547-3C>T
ENST00000554350.5:c.*376-3C>T	ENSP00000451103.1:n.*376-3C>T
ENST00000554491.5:n.798-3C>T
ENST00000554592.5:c.773-3C>T	ENSP00000451385.1:n.773-3C>T
ENST00000554672.5:c.482-3C>T	ENSP00000451417.1:n.482-3C>T
ENST00000554673.5:c.*377-3C>T	ENSP00000452356.1:n.*377-3C>T
ENST00000554994.5:c.*235-3C>T	ENSP00000451771.1:n.*235-3C>T
ENST00000555381.5:c.566-3C>T	ENSP00000451001.1:n.566-3C>T
ENST00000555816.5:c.*283-3C>T	ENSP00000451910.1:n.*283-3C>T
ENST00000555958.5:n.633-3C>T
ENST00000556082.5:c.*282+2062C>T	ENSP00000450492.1:n.*282+2062C>T
ENST00000556220.5:c.458-3C>T	ENSP00000450641.1:n.458-3C>T
ENST00000556274.5:c.*427-3C>T	ENSP00000451733.1:n.*427-3C>T
ENST00000556288.5:c.*427-3C>T	ENSP00000450566.1:n.*427-3C>T
ENST00000556315.5:c.*450-3C>T	ENSP00000451132.1:n.*450-3C>T
ENST00000556339.5:n.410-10011C>T
ENST00000556374.5:c.*450-3C>T	ENSP00000451399.1:n.*450-3C>T
ENST00000556644.5:n.257-10011C>T
ENST00000556671.5:c.*354-3C>T	ENSP00000451693.1:n.*354-3C>T
ENST00000556898.5:c.*273-3C>T	ENSP00000451769.1:n.*273-3C>T
ENST00000556958.5:c.*235-3C>T	ENSP00000452532.1:n.*235-3C>T
ENST00000557030.5:c.578-7C>T	ENSP00000452139.1:n.578-7C>T
ENST00000557311.5:c.239-3C>T	ENSP00000450642.1:n.239-3C>T
ENST00000558190.5:c.776-3C>T	ENSP00000478320.1:n.776-3C>T
ENST00000617719.4:c.776-3C>T	ENSP00000481998.1:n.776-3C>T
ENST00000620536.4:c.776-3C>T	ENSP00000484016.1:n.776-3C>T
ENST00000621269.4:c.776-3C>T	ENSP00000481390.1:n.776-3C>T
NM_001127696.1:c.731-3C>T	NP_001121168.1:n.731-3C>T
NM_001127697.2:c.623-3C>T	NP_001121169.2:n.623-3C>T
NM_001164774.1:c.190-10011C>T	NP_001158246.1:n.190-10011C>T
NM_001164776.1:c.235-10011C>T	NP_001158248.1:n.235-10011C>T
NM_001164777.1:c.70-10011C>T	NP_001158249.1:n.70-10011C>T
NM_001164778.1:c.388-10011C>T	NP_001158250.1:n.388-10011C>T
NM_001164779.1:c.413-3C>T	NP_001158251.1:n.413-3C>T
NM_001164780.1:c.239-3C>T	NP_001158252.1:n.239-3C>T
NM_001164781.1:c.566-3C>T	NP_001158253.1:n.566-3C>T
NM_001164782.1:c.25-10011C>T	NP_001158254.1:n.25-10011C>T
NM_004993.5:c.776-3C>T	NP_004984.2:n.776-3C>T
NM_030660.4:c.611-3C>T	NP_109376.1:n.611-3C>T
NR_028453.1:n.759-3C>T
NR_028454.1:n.594-3C>T
NR_028455.1:n.759-3C>T
NR_028456.1:n.594-3C>T
NR_028457.1:n.850-3C>T
NR_028458.1:n.736-3C>T
NR_028459.1:n.845-3C>T
NR_028460.1:n.371-10011C>T
NR_028461.1:n.757-3C>T
NR_028462.1:n.736-3C>T
NR_028463.1:n.394-3C>T
NR_028464.1:n.692-3C>T
NR_028465.1:n.714-3C>T
NR_028466.1:n.394-3C>T
NR_028467.1:n.760-3C>T
NR_028468.1:n.592-3C>T
NR_028469.1:n.594-3C>T
NR_028470.1:n.161-10011C>T
NR_031765.1:n.261-3C>T
NM_001127696.2:c.731-3C>T	NP_001121168.1:n.731-3C>T
NM_001164774.2:c.190-10011C>T	NP_001158246.1:n.190-10011C>T
NM_001164776.2:c.235-10011C>T	NP_001158248.1:n.235-10011C>T
NM_001164777.2:c.70-10011C>T	NP_001158249.1:n.70-10011C>T
NM_001164778.2:c.388-10011C>T	NP_001158250.1:n.388-10011C>T
NM_001164779.2:c.413-3C>T	NP_001158251.1:n.413-3C>T
NM_001164780.2:c.239-3C>T	NP_001158252.1:n.239-3C>T
NM_001164782.2:c.25-10011C>T	NP_001158254.1:n.25-10011C>T
NM_004993.6:c.776-3C>T MANE Select	NP_004984.2:n.776-3C>T
NM_030660.5:c.611-3C>T	NP_109376.1:n.611-3C>T
NR_028453.2:n.720-3C>T
NR_028454.2:n.555-3C>T
NR_028455.2:n.720-3C>T
NR_028456.2:n.555-3C>T
NR_028457.2:n.811-3C>T
NR_028458.2:n.697-3C>T
NR_028459.2:n.806-3C>T
NR_028460.2:n.332-10011C>T
NR_028461.2:n.718-3C>T
NR_028462.2:n.697-3C>T
NR_028463.2:n.355-3C>T
NR_028464.2:n.653-3C>T
NR_028465.2:n.675-3C>T
NR_028466.2:n.355-3C>T
NR_028467.2:n.721-3C>T
NR_028468.2:n.553-3C>T
NR_028469.2:n.555-3C>T
NR_028470.2:n.122-10011C>T
NR_031765.2:n.222-3C>T
NM_001127697.3:c.623-3C>T	NP_001121169.2:n.623-3C>T
NM_001164781.2:c.566-3C>T	NP_001158253.1:n.566-3C>T