Canonical Allele Identifier: CA3645661

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327997G>A , CM000668.2:g.16327997G>A	GRCh38
NC_000006.11:g.16328228G>A , CM000668.1:g.16328228G>A	GRCh37
NC_000006.10:g.16436207G>A	NCBI36
NG_011571.1:g.438494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.314C>T MANE Select	ENSP00000416360.1:p.Ala105Val
ENST00000642969.1:c.285C>T	ENSP00000493530.1:p.Arg95=
ENST00000244769.8:c.314C>T	ENSP00000244769.3:p.Ala105Val
ENST00000436367.5:c.314C>T	ENSP00000416360.1:p.Ala105Val
NM_000332.3:c.314C>T	NP_000323.2:p.Ala105Val
NM_001128164.1:c.314C>T	NP_001121636.1:p.Ala105Val
NM_001357857.1:c.285C>T	NP_001344786.1:p.Arg95=
NM_001357857.2:c.285C>T	NP_001344786.1:p.Arg95=
NM_001128164.2:c.314C>T MANE Select	NP_001121636.1:p.Ala105Val
NM_000332.4:c.314C>T	NP_000323.2:p.Ala105Val