Canonical Allele Identifier: CA821847027
Gene: ATXN1 HGNC NCBI

Linked Data

dbSNP Id: rs1198590494
MyVariant Identifiers: chr6:g.16318538A>G (hg19) chr6:g.16318307A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16318307A>G , CM000668.2:g.16318307A>G GRCh38
NC_000006.11:g.16318538A>G , CM000668.1:g.16318538A>G GRCh37
NC_000006.10:g.16426517A>G NCBI36
NG_011571.1:g.448184T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000436367.6:c.1917+8087T>C MANE Select ENSP00000416360.1:n.1917+8087T>C
ENST00000244769.8:c.1917+8087T>C ENSP00000244769.3:n.1917+8087T>C
ENST00000436367.5:c.1917+8087T>C ENSP00000416360.1:n.1917+8087T>C
NM_000332.3:c.1917+8087T>C NP_000323.2:n.1917+8087T>C
NM_001128164.1:c.1917+8087T>C NP_001121636.1:n.1917+8087T>C
NM_001357857.1:c.*1330+8087T>C NP_001344786.1:n.*1330+8087T>C
NM_001357857.2:c.*1330+8087T>C NP_001344786.1:n.*1330+8087T>C
NM_001128164.2:c.1917+8087T>C MANE Select NP_001121636.1:n.1917+8087T>C
NM_000332.4:c.1917+8087T>C NP_000323.2:n.1917+8087T>C
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