Canonical Allele Identifier: CA1612729500

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16342825A= , CM000668.2:g.16342825A=	GRCh38
NC_000006.11:g.16343056A= , CM000668.1:g.16343056A=	GRCh37
NC_000006.10:g.16451035A=	NCBI36
NG_011571.1:g.423666T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001128164.2:c.-160-14355T= MANE Select	NP_001121636.1:n.-160-14355T=
ENST00000436367.6:c.-160-14355T= MANE Select	ENSP00000416360.1:n.-160-14355T=
NM_000332.3:c.-160-14355T=	NP_000323.2:n.-160-14355T=
NM_000332.4:c.-160-14355T=	NP_000323.2:n.-160-14355T=
NM_001128164.1:c.-160-14355T=	NP_001121636.1:n.-160-14355T=
NM_001357857.1:c.-189-14355T=	NP_001344786.1:n.-189-14355T=
NM_001357857.2:c.-189-14355T=	NP_001344786.1:n.-189-14355T=
ENST00000244769.8:c.-160-14355T=	ENSP00000244769.3:n.-160-14355T=
ENST00000436367.5:c.-160-14355T=	ENSP00000416360.1:n.-160-14355T=