Canonical Allele Identifier: CA821903238
Gene: ATXN1 HGNC NCBI

Linked Data

dbSNP Id: rs1251026701
gnomAD v3: 6-16396249-A-T
gnomAD v4: 6-16396249-A-T
MyVariant Identifiers: chr6:g.16396480A>T (hg19) chr6:g.16396249A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16396249A>T , CM000668.2:g.16396249A>T GRCh38
NC_000006.11:g.16396480A>T , CM000668.1:g.16396480A>T GRCh37
NC_000006.10:g.16504459A>T NCBI36
NG_011571.1:g.370242T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436367.6:c.-160-67779T>A MANE Select ENSP00000416360.1:n.-160-67779T>A
ENST00000244769.8:c.-160-67779T>A ENSP00000244769.3:n.-160-67779T>A
ENST00000436367.5:c.-160-67779T>A ENSP00000416360.1:n.-160-67779T>A
NM_000332.3:c.-160-67779T>A NP_000323.2:n.-160-67779T>A
NM_001128164.1:c.-160-67779T>A NP_001121636.1:n.-160-67779T>A
NM_001357857.1:c.-189-67779T>A NP_001344786.1:n.-189-67779T>A
NM_001357857.2:c.-189-67779T>A NP_001344786.1:n.-189-67779T>A
NM_001128164.2:c.-160-67779T>A MANE Select NP_001121636.1:n.-160-67779T>A
NM_000332.4:c.-160-67779T>A NP_000323.2:n.-160-67779T>A
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