Canonical Allele Identifier: CA1612838031

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16650124T= , CM000668.2:g.16650124T=	GRCh38
NC_000006.11:g.16650355T= , CM000668.1:g.16650355T=	GRCh37
NC_000006.10:g.16758334T=	NCBI36
NG_011571.1:g.116367A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001128164.2:c.-489+7652A= MANE Select	NP_001121636.1:n.-489+7652A=
ENST00000436367.6:c.-489+7652A= MANE Select	ENSP00000416360.1:n.-489+7652A=
NM_000332.3:c.-489+7652A=	NP_000323.2:n.-489+7652A=
NM_000332.4:c.-489+7652A=	NP_000323.2:n.-489+7652A=
NM_001128164.1:c.-489+7652A=	NP_001121636.1:n.-489+7652A=
NM_001357857.1:c.-518+7652A=	NP_001344786.1:n.-518+7652A=
NM_001357857.2:c.-518+7652A=	NP_001344786.1:n.-518+7652A=
ENST00000244769.8:c.-489+7652A=	ENSP00000244769.3:n.-489+7652A=
ENST00000436367.5:c.-489+7652A=	ENSP00000416360.1:n.-489+7652A=
ENST00000473388.6:n.404+7652A=
ENST00000483591.6:n.243+7652A=
ENST00000495178.1:n.202+7652A=
ENST00000646259.1:n.587+1862A=
ENST00000675689.1:n.276+7652A=