Canonical Allele Identifier: CA3645607

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327799C>T , CM000668.2:g.16327799C>T	GRCh38
NC_000006.11:g.16328030C>T , CM000668.1:g.16328030C>T	GRCh37
NC_000006.10:g.16436009C>T	NCBI36
NG_011571.1:g.438692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.512G>A MANE Select	ENSP00000416360.1:p.Arg171His
ENST00000642969.1:c.483G>A	ENSP00000493530.1:p.Ala161=
ENST00000244769.8:c.512G>A	ENSP00000244769.3:p.Arg171His
ENST00000436367.5:c.512G>A	ENSP00000416360.1:p.Arg171His
NM_000332.3:c.512G>A	NP_000323.2:p.Arg171His
NM_001128164.1:c.512G>A	NP_001121636.1:p.Arg171His
NM_001357857.1:c.483G>A	NP_001344786.1:p.Ala161=
NM_001357857.2:c.483G>A	NP_001344786.1:p.Ala161=
NM_001128164.2:c.512G>A MANE Select	NP_001121636.1:p.Arg171His
NM_000332.4:c.512G>A	NP_000323.2:p.Arg171His