Canonical Allele Identifier: CA151984

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327837T>C , CM000668.2:g.16327837T>C	GRCh38
NC_000006.11:g.16328068T>C , CM000668.1:g.16328068T>C	GRCh37
NC_000006.10:g.16436047T>C	NCBI36
NG_011571.1:g.438654A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.474A>G MANE Select	ENSP00000416360.1:p.Ala158=
ENST00000642969.1:c.445A>G	ENSP00000493530.1:p.Ser149Gly
ENST00000244769.8:c.474A>G	ENSP00000244769.3:p.Ala158=
ENST00000436367.5:c.474A>G	ENSP00000416360.1:p.Ala158=
NM_000332.3:c.474A>G	NP_000323.2:p.Ala158=
NM_001128164.1:c.474A>G	NP_001121636.1:p.Ala158=
NM_001357857.1:c.445A>G	NP_001344786.1:p.Ser149Gly
NM_001357857.2:c.445A>G	NP_001344786.1:p.Ser149Gly
NM_001128164.2:c.474A>G MANE Select	NP_001121636.1:p.Ala158=
NM_000332.4:c.474A>G	NP_000323.2:p.Ala158=