Canonical Allele Identifier: CA1612892809
Gene: ATXN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16699774T= , CM000668.2:g.16699774T= GRCh38
NC_000006.11:g.16700005T= , CM000668.1:g.16700005T= GRCh37
NC_000006.10:g.16807984T= NCBI36
NG_011571.1:g.66717A=

Transcript Alleles

HGVS Amino-acid change
ENST00000436367.6:c.-614-41873A= MANE Select ENSP00000416360.1:n.-614-41873A=
ENST00000643828.1:n.345-32222A=
ENST00000646259.1:n.189-41873A=
ENST00000675689.1:n.151-41873A=
ENST00000244769.8:c.-614-41873A= ENSP00000244769.3:n.-614-41873A=
ENST00000436367.5:c.-614-41873A= ENSP00000416360.1:n.-614-41873A=
ENST00000473388.6:n.279-41873A=
ENST00000483591.6:n.118-41873A=
ENST00000483954.1:n.160-32222A=
ENST00000495178.1:n.77-41873A=
NM_000332.3:c.-614-41873A= NP_000323.2:n.-614-41873A=
NM_001128164.1:c.-614-41873A= NP_001121636.1:n.-614-41873A=
NM_001357857.1:c.-643-41873A= NP_001344786.1:n.-643-41873A=
NM_001357857.2:c.-643-41873A= NP_001344786.1:n.-643-41873A=
NM_001128164.2:c.-614-41873A= MANE Select NP_001121636.1:n.-614-41873A=
NM_000332.4:c.-614-41873A= NP_000323.2:n.-614-41873A=