Canonical Allele Identifier: CA3645603

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327755T>A , CM000668.2:g.16327755T>A	GRCh38
NC_000006.11:g.16327986T>A , CM000668.1:g.16327986T>A	GRCh37
NC_000006.10:g.16435965T>A	NCBI36
NG_011571.1:g.438736A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.556A>T MANE Select	ENSP00000416360.1:p.Ser186Cys
ENST00000642969.1:c.527A>T	ENSP00000493530.1:p.Gln176Leu
ENST00000244769.8:c.556A>T	ENSP00000244769.3:p.Ser186Cys
ENST00000436367.5:c.556A>T	ENSP00000416360.1:p.Ser186Cys
NM_000332.3:c.556A>T	NP_000323.2:p.Ser186Cys
NM_001128164.1:c.556A>T	NP_001121636.1:p.Ser186Cys
NM_001357857.1:c.527A>T	NP_001344786.1:p.Gln176Leu
NM_001357857.2:c.527A>T	NP_001344786.1:p.Gln176Leu
NM_001128164.2:c.556A>T MANE Select	NP_001121636.1:p.Ser186Cys
NM_000332.4:c.556A>T	NP_000323.2:p.Ser186Cys