Canonical Allele Identifier: CA1612740116
Gene: ATXN1 HGNC NCBI

Linked Data

dbSNP Id: rs1758448407
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16395980A>G , CM000668.2:g.16395980A>G GRCh38
NC_000006.11:g.16396211A>G , CM000668.1:g.16396211A>G GRCh37
NC_000006.10:g.16504190A>G NCBI36
NG_011571.1:g.370511T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000436367.6:c.-160-67510T>C MANE Select ENSP00000416360.1:n.-160-67510T>C
ENST00000244769.8:c.-160-67510T>C ENSP00000244769.3:n.-160-67510T>C
ENST00000436367.5:c.-160-67510T>C ENSP00000416360.1:n.-160-67510T>C
NM_000332.3:c.-160-67510T>C NP_000323.2:n.-160-67510T>C
NM_001128164.1:c.-160-67510T>C NP_001121636.1:n.-160-67510T>C
NM_001357857.1:c.-189-67510T>C NP_001344786.1:n.-189-67510T>C
NM_001357857.2:c.-189-67510T>C NP_001344786.1:n.-189-67510T>C
NM_001128164.2:c.-160-67510T>C MANE Select NP_001121636.1:n.-160-67510T>C
NM_000332.4:c.-160-67510T>C NP_000323.2:n.-160-67510T>C
Search 100 bp 5'
Search 100 bp 3'