Canonical Allele Identifier: CA448955383
Gene: ATXN1 HGNC NCBI

Linked Data

gnomAD v4: 6-16327588-T-C
MyVariant Identifiers: chr6:g.16327819T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16327588T>C , CM000668.2:g.16327588T>C GRCh38
NC_000006.11:g.16327819T>C , CM000668.1:g.16327819T>C GRCh37
NC_000006.10:g.16435798T>C NCBI36
NG_011571.1:g.438903A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000436367.6:c.723A>G MANE Select ENSP00000416360.1:p.Pro241=
ENST00000244769.8:c.723A>G ENSP00000244769.3:p.Pro241=
ENST00000436367.5:c.723A>G ENSP00000416360.1:p.Pro241=
NM_000332.3:c.723A>G NP_000323.2:p.Pro241=
NM_001128164.1:c.723A>G NP_001121636.1:p.Pro241=
NM_001357857.1:c.*136A>G NP_001344786.1:n.*136A>G
NM_001357857.2:c.*136A>G NP_001344786.1:n.*136A>G
NM_001128164.2:c.723A>G MANE Select NP_001121636.1:p.Pro241=
NM_000332.4:c.723A>G NP_000323.2:p.Pro241=
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