Canonical Allele Identifier: CA1612705647
Gene: ATXN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16396576A= , CM000668.2:g.16396576A= GRCh38
NC_000006.11:g.16396807A= , CM000668.1:g.16396807A= GRCh37
NC_000006.10:g.16504786A= NCBI36
NG_011571.1:g.369915T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000436367.6:c.-160-68106T= MANE Select ENSP00000416360.1:n.-160-68106T=
ENST00000244769.8:c.-160-68106T= ENSP00000244769.3:n.-160-68106T=
ENST00000436367.5:c.-160-68106T= ENSP00000416360.1:n.-160-68106T=
NM_000332.3:c.-160-68106T= NP_000323.2:n.-160-68106T=
NM_001128164.1:c.-160-68106T= NP_001121636.1:n.-160-68106T=
NM_001357857.1:c.-189-68106T= NP_001344786.1:n.-189-68106T=
NM_001357857.2:c.-189-68106T= NP_001344786.1:n.-189-68106T=
NM_001128164.2:c.-160-68106T= MANE Select NP_001121636.1:n.-160-68106T=
NM_000332.4:c.-160-68106T= NP_000323.2:n.-160-68106T=
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