Canonical Allele Identifier: CA1086368582
Gene: ATXN1 HGNC NCBI

Linked Data

gnomAD v3: 6-16396010-T-A
gnomAD v4: 6-16396010-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16396010T>A , CM000668.2:g.16396010T>A GRCh38
NC_000006.11:g.16396241T>A , CM000668.1:g.16396241T>A GRCh37
NC_000006.10:g.16504220T>A NCBI36
NG_011571.1:g.370481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000436367.6:c.-160-67540A>T MANE Select ENSP00000416360.1:n.-160-67540A>T
ENST00000244769.8:c.-160-67540A>T ENSP00000244769.3:n.-160-67540A>T
ENST00000436367.5:c.-160-67540A>T ENSP00000416360.1:n.-160-67540A>T
NM_000332.3:c.-160-67540A>T NP_000323.2:n.-160-67540A>T
NM_001128164.1:c.-160-67540A>T NP_001121636.1:n.-160-67540A>T
NM_001357857.1:c.-189-67540A>T NP_001344786.1:n.-189-67540A>T
NM_001357857.2:c.-189-67540A>T NP_001344786.1:n.-189-67540A>T
NM_001128164.2:c.-160-67540A>T MANE Select NP_001121636.1:n.-160-67540A>T
NM_000332.4:c.-160-67540A>T NP_000323.2:n.-160-67540A>T
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