Canonical Allele Identifier: CA2843644537

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699742C>A , CM000668.2:g.16699742C>A	GRCh38
NC_000006.11:g.16699973C>A , CM000668.1:g.16699973C>A	GRCh37
NC_000006.10:g.16807952C>A	NCBI36
NG_011571.1:g.66749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-614-41841G>T MANE Select	ENSP00000416360.1:n.-614-41841G>T
ENST00000643828.1:n.345-32190G>T
ENST00000646259.1:n.189-41841G>T
ENST00000675689.1:n.151-41841G>T
ENST00000244769.8:c.-614-41841G>T	ENSP00000244769.3:n.-614-41841G>T
ENST00000436367.5:c.-614-41841G>T	ENSP00000416360.1:n.-614-41841G>T
ENST00000473388.6:n.279-41841G>T
ENST00000483591.6:n.118-41841G>T
ENST00000483954.1:n.160-32190G>T
ENST00000495178.1:n.77-41841G>T
NM_000332.3:c.-614-41841G>T	NP_000323.2:n.-614-41841G>T
NM_001128164.1:c.-614-41841G>T	NP_001121636.1:n.-614-41841G>T
NM_001357857.1:c.-643-41841G>T	NP_001344786.1:n.-643-41841G>T
NM_001357857.2:c.-643-41841G>T	NP_001344786.1:n.-643-41841G>T
NM_001128164.2:c.-614-41841G>T MANE Select	NP_001121636.1:n.-614-41841G>T
NM_000332.4:c.-614-41841G>T	NP_000323.2:n.-614-41841G>T