Canonical Allele Identifier: CA362812017
Gene: ATXN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.16327820G>C (hg19) chr6:g.16327589G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16327589G>C , CM000668.2:g.16327589G>C GRCh38
NC_000006.11:g.16327820G>C , CM000668.1:g.16327820G>C GRCh37
NC_000006.10:g.16435799G>C NCBI36
NG_011571.1:g.438902C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000436367.6:c.722C>G MANE Select ENSP00000416360.1:p.Pro241Arg
ENST00000244769.8:c.722C>G ENSP00000244769.3:p.Pro241Arg
ENST00000436367.5:c.722C>G ENSP00000416360.1:p.Pro241Arg
NM_000332.3:c.722C>G NP_000323.2:p.Pro241Arg
NM_001128164.1:c.722C>G NP_001121636.1:p.Pro241Arg
NM_001357857.1:c.*135C>G NP_001344786.1:n.*135C>G
NM_001357857.2:c.*135C>G NP_001344786.1:n.*135C>G
NM_001128164.2:c.722C>G MANE Select NP_001121636.1:p.Pro241Arg
NM_000332.4:c.722C>G NP_000323.2:p.Pro241Arg
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