Canonical Allele Identifier: CA390649585

Gene: ATXN3

Linked Data

• dbSNP Id: rs12895357
• gnomAD v4: 14-92071010-C-A
• MyVariant Identifiers: chr14:g.92537354C>A (hg19) ; chr14:g.92071010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010C>A , CM000676.2:g.92071010C>A	GRCh38
NC_000014.8:g.92537354C>A , CM000676.1:g.92537354C>A	GRCh37
NC_000014.7:g.91607107C>A	NCBI36
NG_008198.2:g.40612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*590G>T	ENSP00000352324.5:n.*590G>T
ENST00000557030.6:c.*111G>T	ENSP00000452139.1:n.*111G>T
ENST00000557311.6:c.379G>T	ENSP00000450642.2:p.Gly127Trp
ENST00000644486.2:c.916G>T MANE Select	ENSP00000496695.1:p.Gly306Trp
ENST00000647161.1:c.916G>T	ENSP00000493680.1:p.Gly306Trp
ENST00000340660.10:c.751G>T	ENSP00000339110.6:p.Gly251Trp
ENST00000359366.9:c.*590G>T	ENSP00000352324.5:n.*590G>T
ENST00000393287.9:c.763G>T	ENSP00000376965.6:p.Gly255Trp
ENST00000429774.6:c.706G>T	ENSP00000389376.3:p.Gly236Trp
ENST00000502250.5:c.379G>T	ENSP00000425322.1:p.Gly127Trp
ENST00000503767.5:c.871G>T	ENSP00000426697.1:p.Gly291Trp
ENST00000526245.1:n.117-12223G>T
ENST00000532032.5:c.916G>T	ENSP00000437157.1:p.Gly306Trp
ENST00000545170.5:c.943G>T	ENSP00000445618.2:p.Gly315Trp
ENST00000553287.5:n.654G>T
ENST00000553309.5:n.950G>T
ENST00000553488.5:c.*731G>T	ENSP00000452461.1:n.*731G>T
ENST00000553491.5:c.763G>T	ENSP00000451996.1:p.Gly255Trp
ENST00000553498.5:n.839G>T
ENST00000553570.5:c.*375G>T	ENSP00000451405.1:n.*375G>T
ENST00000553686.5:n.797G>T
ENST00000554040.5:n.520G>T
ENST00000554214.5:n.699G>T
ENST00000554350.5:c.*516G>T	ENSP00000451103.1:n.*516G>T
ENST00000554491.5:n.992G>T
ENST00000554592.5:c.913G>T	ENSP00000451385.1:p.Gly305Trp
ENST00000554672.5:c.622G>T	ENSP00000451417.1:p.Gly208Trp
ENST00000554994.5:c.*375G>T	ENSP00000451771.1:n.*375G>T
ENST00000555381.5:c.706G>T	ENSP00000451001.1:p.Gly236Trp
ENST00000555816.5:c.*423G>T	ENSP00000451910.1:n.*423G>T
ENST00000555958.5:n.785G>T
ENST00000556082.5:c.*326G>T	ENSP00000450492.1:n.*326G>T
ENST00000556220.5:c.598G>T	ENSP00000450641.1:p.Gly200Trp
ENST00000556274.5:c.*579G>T	ENSP00000451733.1:n.*579G>T
ENST00000556288.5:c.*567G>T	ENSP00000450566.1:n.*567G>T
ENST00000556315.5:c.*590G>T	ENSP00000451132.1:n.*590G>T
ENST00000556339.5:n.453G>T
ENST00000556374.5:c.*644G>T	ENSP00000451399.1:n.*644G>T
ENST00000556644.5:n.300G>T
ENST00000556671.5:c.*494G>T	ENSP00000451693.1:n.*494G>T
ENST00000556898.5:c.*413G>T	ENSP00000451769.1:n.*413G>T
ENST00000556958.5:c.*375G>T	ENSP00000452532.1:n.*375G>T
ENST00000557030.5:c.*111G>T	ENSP00000452139.1:n.*111G>T
ENST00000557311.5:c.379G>T	ENSP00000450642.1:p.Gly127Trp
ENST00000558190.5:c.916G>T	ENSP00000478320.1:p.Gly306Trp
ENST00000617719.4:c.*74G>T	ENSP00000481998.1:n.*74G>T
ENST00000620536.4:c.943G>T	ENSP00000484016.1:p.Gly315Trp
ENST00000624063.1:c.31C>A	ENSP00000485197.1:p.Pro11Thr
NM_001127696.1:c.871G>T	NP_001121168.1:p.Gly291Trp
NM_001127697.2:c.763G>T	NP_001121169.2:p.Gly255Trp
NM_001164774.1:c.233G>T	NP_001158246.1:p.Gly78Val
NM_001164776.1:c.278G>T	NP_001158248.1:p.Gly93Val
NM_001164777.1:c.113G>T	NP_001158249.1:p.Gly38Val
NM_001164778.1:c.431G>T	NP_001158250.1:p.Gly144Val
NM_001164779.1:c.553G>T	NP_001158251.1:p.Gly185Trp
NM_001164780.1:c.379G>T	NP_001158252.1:p.Gly127Trp
NM_001164781.1:c.706G>T	NP_001158253.1:p.Gly236Trp
NM_001164782.1:c.68G>T	NP_001158254.1:p.Gly23Val
NM_004993.5:c.916G>T	NP_004984.2:p.Gly306Trp
NM_030660.4:c.751G>T	NP_109376.1:p.Gly251Trp
NR_028453.1:n.899G>T
NR_028454.1:n.734G>T
NR_028455.1:n.953G>T
NR_028456.1:n.788G>T
NR_028457.1:n.1044G>T
NR_028458.1:n.888G>T
NR_028459.1:n.1039G>T
NR_028460.1:n.414G>T
NR_028461.1:n.897G>T
NR_028462.1:n.876G>T
NR_028463.1:n.588G>T
NR_028464.1:n.886G>T
NR_028465.1:n.908G>T
NR_028466.1:n.534G>T
NR_028467.1:n.900G>T
NR_028468.1:n.732G>T
NR_028469.1:n.746G>T
NR_028470.1:n.204G>T
NR_031765.1:n.401G>T
NM_001127696.2:c.871G>T	NP_001121168.1:p.Gly291Trp
NM_001164774.2:c.233G>T	NP_001158246.1:p.Gly78Val
NM_001164776.2:c.278G>T	NP_001158248.1:p.Gly93Val
NM_001164777.2:c.113G>T	NP_001158249.1:p.Gly38Val
NM_001164778.2:c.431G>T	NP_001158250.1:p.Gly144Val
NM_001164779.2:c.553G>T	NP_001158251.1:p.Gly185Trp
NM_001164780.2:c.379G>T	NP_001158252.1:p.Gly127Trp
NM_001164782.2:c.68G>T	NP_001158254.1:p.Gly23Val
NM_004993.6:c.916G>T MANE Select	NP_004984.2:p.Gly306Trp
NM_030660.5:c.751G>T	NP_109376.1:p.Gly251Trp
NR_028453.2:n.860G>T
NR_028454.2:n.695G>T
NR_028455.2:n.914G>T
NR_028456.2:n.749G>T
NR_028457.2:n.1005G>T
NR_028458.2:n.849G>T
NR_028459.2:n.1000G>T
NR_028460.2:n.375G>T
NR_028461.2:n.858G>T
NR_028462.2:n.837G>T
NR_028463.2:n.549G>T
NR_028464.2:n.847G>T
NR_028465.2:n.869G>T
NR_028466.2:n.495G>T
NR_028467.2:n.861G>T
NR_028468.2:n.693G>T
NR_028469.2:n.707G>T
NR_028470.2:n.165G>T
NR_031765.2:n.362G>T
NM_001127697.3:c.763G>T	NP_001121169.2:p.Gly255Trp
NM_001164781.2:c.706G>T	NP_001158253.1:p.Gly236Trp