Canonical Allele Identifier: CA1612714968

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16318349T= , CM000668.2:g.16318349T=	GRCh38
NC_000006.11:g.16318580T= , CM000668.1:g.16318580T=	GRCh37
NC_000006.10:g.16426559T=	NCBI36
NG_011571.1:g.448142A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.1917+8045A= MANE Select	ENSP00000416360.1:n.1917+8045A=
ENST00000244769.8:c.1917+8045A=	ENSP00000244769.3:n.1917+8045A=
ENST00000436367.5:c.1917+8045A=	ENSP00000416360.1:n.1917+8045A=
NM_000332.3:c.1917+8045A=	NP_000323.2:n.1917+8045A=
NM_001128164.1:c.1917+8045A=	NP_001121636.1:n.1917+8045A=
NM_001357857.1:c.*1330+8045A=	NP_001344786.1:n.*1330+8045A=
NM_001357857.2:c.*1330+8045A=	NP_001344786.1:n.*1330+8045A=
NM_001128164.2:c.1917+8045A= MANE Select	NP_001121636.1:n.1917+8045A=
NM_000332.4:c.1917+8045A=	NP_000323.2:n.1917+8045A=