Canonical Allele Identifier: CA2626173849

Gene: ATXN3

Linked Data

• gnomAD v4: 14-92070649-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92070649T>G , CM000676.2:g.92070649T>G	GRCh38
NC_000014.8:g.92536993T>G , CM000676.1:g.92536993T>G	GRCh37
NC_000014.7:g.91606746T>G	NCBI36
NG_008198.2:g.40973A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359366.10:c.*665+286A>C	ENSP00000352324.5:n.*665+286A>C
ENST00000644486.2:c.991+286A>C MANE Select	ENSP00000496695.1:n.991+286A>C
ENST00000647161.1:c.991+286A>C	ENSP00000493680.1:n.991+286A>C
ENST00000340660.10:c.826+286A>C	ENSP00000339110.6:n.826+286A>C
ENST00000359366.9:c.*665+286A>C	ENSP00000352324.5:n.*665+286A>C
ENST00000393287.9:c.838+286A>C	ENSP00000376965.6:n.838+286A>C
ENST00000429774.6:c.781+286A>C	ENSP00000389376.3:n.781+286A>C
ENST00000502250.5:c.454+286A>C	ENSP00000425322.1:n.454+286A>C
ENST00000503767.5:c.946+286A>C	ENSP00000426697.1:n.946+286A>C
ENST00000526245.1:n.117-11862A>C
ENST00000545170.5:c.1018+286A>C	ENSP00000445618.2:n.1018+286A>C
ENST00000558190.5:c.991+286A>C	ENSP00000478320.1:n.991+286A>C
ENST00000624063.1:c.26-356T>G	ENSP00000485197.1:n.26-356T>G
NM_001127696.1:c.946+286A>C	NP_001121168.1:n.946+286A>C
NM_001127697.2:c.838+286A>C	NP_001121169.2:n.838+286A>C
NM_001164774.1:c.*41+286A>C	NP_001158246.1:n.*41+286A>C
NM_001164776.1:c.*41+286A>C	NP_001158248.1:n.*41+286A>C
NM_001164777.1:c.*41+286A>C	NP_001158249.1:n.*41+286A>C
NM_001164778.1:c.*41+286A>C	NP_001158250.1:n.*41+286A>C
NM_001164779.1:c.628+286A>C	NP_001158251.1:n.628+286A>C
NM_001164780.1:c.454+286A>C	NP_001158252.1:n.454+286A>C
NM_001164781.1:c.781+286A>C	NP_001158253.1:n.781+286A>C
NM_001164782.1:c.*41+286A>C	NP_001158254.1:n.*41+286A>C
NM_004993.5:c.991+286A>C	NP_004984.2:n.991+286A>C
NM_030660.4:c.826+286A>C	NP_109376.1:n.826+286A>C
NR_028453.1:n.974+286A>C
NR_028454.1:n.809+286A>C
NR_028455.1:n.1028+286A>C
NR_028456.1:n.863+286A>C
NR_028457.1:n.1119+286A>C
NR_028458.1:n.963+286A>C
NR_028459.1:n.1114+286A>C
NR_028460.1:n.489+286A>C
NR_028461.1:n.972+286A>C
NR_028462.1:n.951+286A>C
NR_028463.1:n.663+286A>C
NR_028464.1:n.961+286A>C
NR_028465.1:n.983+286A>C
NR_028466.1:n.609+286A>C
NR_028467.1:n.975+286A>C
NR_028468.1:n.807+286A>C
NR_028469.1:n.821+286A>C
NR_028470.1:n.279+286A>C
NR_031765.1:n.476+286A>C
NM_001127696.2:c.946+286A>C	NP_001121168.1:n.946+286A>C
NM_001164774.2:c.*41+286A>C	NP_001158246.1:n.*41+286A>C
NM_001164776.2:c.*41+286A>C	NP_001158248.1:n.*41+286A>C
NM_001164777.2:c.*41+286A>C	NP_001158249.1:n.*41+286A>C
NM_001164778.2:c.*41+286A>C	NP_001158250.1:n.*41+286A>C
NM_001164779.2:c.628+286A>C	NP_001158251.1:n.628+286A>C
NM_001164780.2:c.454+286A>C	NP_001158252.1:n.454+286A>C
NM_001164782.2:c.*41+286A>C	NP_001158254.1:n.*41+286A>C
NM_004993.6:c.991+286A>C MANE Select	NP_004984.2:n.991+286A>C
NM_030660.5:c.826+286A>C	NP_109376.1:n.826+286A>C
NR_028453.2:n.935+286A>C
NR_028454.2:n.770+286A>C
NR_028455.2:n.989+286A>C
NR_028456.2:n.824+286A>C
NR_028457.2:n.1080+286A>C
NR_028458.2:n.924+286A>C
NR_028459.2:n.1075+286A>C
NR_028460.2:n.450+286A>C
NR_028461.2:n.933+286A>C
NR_028462.2:n.912+286A>C
NR_028463.2:n.624+286A>C
NR_028464.2:n.922+286A>C
NR_028465.2:n.944+286A>C
NR_028466.2:n.570+286A>C
NR_028467.2:n.936+286A>C
NR_028468.2:n.768+286A>C
NR_028469.2:n.782+286A>C
NR_028470.2:n.240+286A>C
NR_031765.2:n.437+286A>C
NM_001127697.3:c.838+286A>C	NP_001121169.2:n.838+286A>C
NM_001164781.2:c.781+286A>C	NP_001158253.1:n.781+286A>C