Canonical Allele Identifier: CA1612740188
Gene: ATXN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16396047A= , CM000668.2:g.16396047A= GRCh38
NC_000006.11:g.16396278A= , CM000668.1:g.16396278A= GRCh37
NC_000006.10:g.16504257A= NCBI36
NG_011571.1:g.370444T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000436367.6:c.-160-67577T= MANE Select ENSP00000416360.1:n.-160-67577T=
ENST00000244769.8:c.-160-67577T= ENSP00000244769.3:n.-160-67577T=
ENST00000436367.5:c.-160-67577T= ENSP00000416360.1:n.-160-67577T=
NM_000332.3:c.-160-67577T= NP_000323.2:n.-160-67577T=
NM_001128164.1:c.-160-67577T= NP_001121636.1:n.-160-67577T=
NM_001357857.1:c.-189-67577T= NP_001344786.1:n.-189-67577T=
NM_001357857.2:c.-189-67577T= NP_001344786.1:n.-189-67577T=
NM_001128164.2:c.-160-67577T= MANE Select NP_001121636.1:n.-160-67577T=
NM_000332.4:c.-160-67577T= NP_000323.2:n.-160-67577T=