Canonical Allele Identifier: CA1612729346

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327587C= , CM000668.2:g.16327587C=	GRCh38
NC_000006.11:g.16327818C= , CM000668.1:g.16327818C=	GRCh37
NC_000006.10:g.16435797C=	NCBI36
NG_011571.1:g.438904G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.724G= MANE Select	ENSP00000416360.1:p.Ala242=
ENST00000244769.8:c.724G=	ENSP00000244769.3:p.Ala242=
ENST00000436367.5:c.724G=	ENSP00000416360.1:p.Ala242=
NM_000332.3:c.724G=	NP_000323.2:p.Ala242=
NM_001128164.1:c.724G=	NP_001121636.1:p.Ala242=
NM_001357857.1:c.*137G=	NP_001344786.1:n.*137G=
NM_001357857.2:c.*137G=	NP_001344786.1:n.*137G=
NM_001128164.2:c.724G= MANE Select	NP_001121636.1:p.Ala242=
NM_000332.4:c.724G=	NP_000323.2:p.Ala242=