Canonical Allele Identifier: CA7314495

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92080992C>T , CM000676.2:g.92080992C>T	GRCh38
NC_000014.8:g.92547336C>T , CM000676.1:g.92547336C>T	GRCh37
NC_000014.7:g.91617089C>T	NCBI36
NG_008198.2:g.30630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*519G>A	ENSP00000352324.5:n.*519G>A
ENST00000515746.6:c.*304G>A	ENSP00000422073.1:n.*304G>A
ENST00000554672.6:c.308G>A	ENSP00000451417.2:p.Arg103Gln
ENST00000556082.6:c.*282+2134G>A	ENSP00000450492.1:n.*282+2134G>A
ENST00000556315.6:c.*519G>A	ENSP00000451132.1:n.*519G>A
ENST00000557030.6:c.*40G>A	ENSP00000452139.1:n.*40G>A
ENST00000557311.6:c.308G>A	ENSP00000450642.2:p.Arg103Gln
ENST00000644486.2:c.845G>A MANE Select	ENSP00000496695.1:p.Arg282Gln
ENST00000646485.1:c.*40G>A	ENSP00000496590.1:n.*40G>A
ENST00000647161.1:c.845G>A	ENSP00000493680.1:p.Arg282Gln
ENST00000340660.10:c.680G>A	ENSP00000339110.6:p.Arg227Gln
ENST00000359366.9:c.*519G>A	ENSP00000352324.5:n.*519G>A
ENST00000393287.9:c.692G>A	ENSP00000376965.6:p.Arg231Gln
ENST00000429774.6:c.635G>A	ENSP00000389376.3:p.Arg212Gln
ENST00000502250.5:c.308G>A	ENSP00000425322.1:p.Arg103Gln
ENST00000503767.5:c.800G>A	ENSP00000426697.1:p.Arg267Gln
ENST00000515746.5:c.*304G>A	ENSP00000422073.1:n.*304G>A
ENST00000526245.1:n.116+7776G>A
ENST00000532032.5:c.845G>A	ENSP00000437157.1:p.Arg282Gln
ENST00000545170.5:c.845G>A	ENSP00000445618.2:p.Arg282Gln
ENST00000553287.5:n.571G>A
ENST00000553309.5:n.867G>A
ENST00000553488.5:c.*606G>A	ENSP00000452461.1:n.*606G>A
ENST00000553491.5:c.692G>A	ENSP00000451996.1:p.Arg231Gln
ENST00000553498.5:n.714G>A
ENST00000553570.5:c.*304G>A	ENSP00000451405.1:n.*304G>A
ENST00000553686.5:n.714G>A
ENST00000554040.5:n.449G>A
ENST00000554214.5:n.616G>A
ENST00000554350.5:c.*445G>A	ENSP00000451103.1:n.*445G>A
ENST00000554491.5:n.867G>A
ENST00000554592.5:c.842G>A	ENSP00000451385.1:p.Arg281Gln
ENST00000554672.5:c.551G>A	ENSP00000451417.1:p.Arg184Gln
ENST00000554673.5:c.*446G>A	ENSP00000452356.1:n.*446G>A
ENST00000554994.5:c.*304G>A	ENSP00000451771.1:n.*304G>A
ENST00000555381.5:c.635G>A	ENSP00000451001.1:p.Arg212Gln
ENST00000555816.5:c.*352G>A	ENSP00000451910.1:n.*352G>A
ENST00000555958.5:n.702G>A
ENST00000556082.5:c.*282+2134G>A	ENSP00000450492.1:n.*282+2134G>A
ENST00000556220.5:c.527G>A	ENSP00000450641.1:p.Arg176Gln
ENST00000556274.5:c.*496G>A	ENSP00000451733.1:n.*496G>A
ENST00000556288.5:c.*496G>A	ENSP00000450566.1:n.*496G>A
ENST00000556315.5:c.*519G>A	ENSP00000451132.1:n.*519G>A
ENST00000556339.5:n.410-9939G>A
ENST00000556374.5:c.*519G>A	ENSP00000451399.1:n.*519G>A
ENST00000556644.5:n.257-9939G>A
ENST00000556671.5:c.*423G>A	ENSP00000451693.1:n.*423G>A
ENST00000556898.5:c.*342G>A	ENSP00000451769.1:n.*342G>A
ENST00000556958.5:c.*304G>A	ENSP00000452532.1:n.*304G>A
ENST00000557030.5:c.*40G>A	ENSP00000452139.1:n.*40G>A
ENST00000557311.5:c.308G>A	ENSP00000450642.1:p.Arg103Gln
ENST00000558190.5:c.845G>A	ENSP00000478320.1:p.Arg282Gln
ENST00000617719.4:c.845G>A	ENSP00000481998.1:p.Arg282Gln
ENST00000620536.4:c.845G>A	ENSP00000484016.1:p.Arg282Gln
ENST00000621269.4:c.843G>A	ENSP00000481390.1:p.Ser281=
NM_001127696.1:c.800G>A	NP_001121168.1:p.Arg267Gln
NM_001127697.2:c.692G>A	NP_001121169.2:p.Arg231Gln
NM_001164774.1:c.190-9939G>A	NP_001158246.1:n.190-9939G>A
NM_001164776.1:c.235-9939G>A	NP_001158248.1:n.235-9939G>A
NM_001164777.1:c.70-9939G>A	NP_001158249.1:n.70-9939G>A
NM_001164778.1:c.388-9939G>A	NP_001158250.1:n.388-9939G>A
NM_001164779.1:c.482G>A	NP_001158251.1:p.Arg161Gln
NM_001164780.1:c.308G>A	NP_001158252.1:p.Arg103Gln
NM_001164781.1:c.635G>A	NP_001158253.1:p.Arg212Gln
NM_001164782.1:c.25-9939G>A	NP_001158254.1:n.25-9939G>A
NM_004993.5:c.845G>A	NP_004984.2:p.Arg282Gln
NM_030660.4:c.680G>A	NP_109376.1:p.Arg227Gln
NR_028453.1:n.828G>A
NR_028454.1:n.663G>A
NR_028455.1:n.828G>A
NR_028456.1:n.663G>A
NR_028457.1:n.919G>A
NR_028458.1:n.805G>A
NR_028459.1:n.914G>A
NR_028460.1:n.371-9939G>A
NR_028461.1:n.826G>A
NR_028462.1:n.805G>A
NR_028463.1:n.463G>A
NR_028464.1:n.761G>A
NR_028465.1:n.783G>A
NR_028466.1:n.463G>A
NR_028467.1:n.829G>A
NR_028468.1:n.661G>A
NR_028469.1:n.663G>A
NR_028470.1:n.161-9939G>A
NR_031765.1:n.330G>A
NM_001127696.2:c.800G>A	NP_001121168.1:p.Arg267Gln
NM_001164774.2:c.190-9939G>A	NP_001158246.1:n.190-9939G>A
NM_001164776.2:c.235-9939G>A	NP_001158248.1:n.235-9939G>A
NM_001164777.2:c.70-9939G>A	NP_001158249.1:n.70-9939G>A
NM_001164778.2:c.388-9939G>A	NP_001158250.1:n.388-9939G>A
NM_001164779.2:c.482G>A	NP_001158251.1:p.Arg161Gln
NM_001164780.2:c.308G>A	NP_001158252.1:p.Arg103Gln
NM_001164782.2:c.25-9939G>A	NP_001158254.1:n.25-9939G>A
NM_004993.6:c.845G>A MANE Select	NP_004984.2:p.Arg282Gln
NM_030660.5:c.680G>A	NP_109376.1:p.Arg227Gln
NR_028453.2:n.789G>A
NR_028454.2:n.624G>A
NR_028455.2:n.789G>A
NR_028456.2:n.624G>A
NR_028457.2:n.880G>A
NR_028458.2:n.766G>A
NR_028459.2:n.875G>A
NR_028460.2:n.332-9939G>A
NR_028461.2:n.787G>A
NR_028462.2:n.766G>A
NR_028463.2:n.424G>A
NR_028464.2:n.722G>A
NR_028465.2:n.744G>A
NR_028466.2:n.424G>A
NR_028467.2:n.790G>A
NR_028468.2:n.622G>A
NR_028469.2:n.624G>A
NR_028470.2:n.122-9939G>A
NR_031765.2:n.291G>A
NM_001127697.3:c.692G>A	NP_001121169.2:p.Arg231Gln
NM_001164781.2:c.635G>A	NP_001158253.1:p.Arg212Gln