Canonical Allele Identifier: CA1612892959
Gene: ATXN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16699909C= , CM000668.2:g.16699909C= GRCh38
NC_000006.11:g.16700140C= , CM000668.1:g.16700140C= GRCh37
NC_000006.10:g.16808119C= NCBI36
NG_011571.1:g.66582G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000436367.6:c.-614-42008G= MANE Select ENSP00000416360.1:n.-614-42008G=
ENST00000643828.1:n.345-32357G=
ENST00000646259.1:n.189-42008G=
ENST00000675689.1:n.151-42008G=
ENST00000244769.8:c.-614-42008G= ENSP00000244769.3:n.-614-42008G=
ENST00000436367.5:c.-614-42008G= ENSP00000416360.1:n.-614-42008G=
ENST00000473388.6:n.279-42008G=
ENST00000483591.6:n.118-42008G=
ENST00000483954.1:n.160-32357G=
ENST00000495178.1:n.77-42008G=
NM_000332.3:c.-614-42008G= NP_000323.2:n.-614-42008G=
NM_001128164.1:c.-614-42008G= NP_001121636.1:n.-614-42008G=
NM_001357857.1:c.-643-42008G= NP_001344786.1:n.-643-42008G=
NM_001357857.2:c.-643-42008G= NP_001344786.1:n.-643-42008G=
NM_001128164.2:c.-614-42008G= MANE Select NP_001121636.1:n.-614-42008G=
NM_000332.4:c.-614-42008G= NP_000323.2:n.-614-42008G=