Canonical Allele Identifier: CA1086394460

Gene: ATXN1

Linked Data

• dbSNP Id: rs142543027
• gnomAD v3: 6-16699792-C-G
• gnomAD v4: 6-16699792-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699792C>G , CM000668.2:g.16699792C>G	GRCh38
NC_000006.11:g.16700023C>G , CM000668.1:g.16700023C>G	GRCh37
NC_000006.10:g.16808002C>G	NCBI36
NG_011571.1:g.66699G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-614-41891G>C MANE Select	ENSP00000416360.1:n.-614-41891G>C
ENST00000643828.1:n.345-32240G>C
ENST00000646259.1:n.189-41891G>C
ENST00000675689.1:n.151-41891G>C
ENST00000244769.8:c.-614-41891G>C	ENSP00000244769.3:n.-614-41891G>C
ENST00000436367.5:c.-614-41891G>C	ENSP00000416360.1:n.-614-41891G>C
ENST00000473388.6:n.279-41891G>C
ENST00000483591.6:n.118-41891G>C
ENST00000483954.1:n.160-32240G>C
ENST00000495178.1:n.77-41891G>C
NM_000332.3:c.-614-41891G>C	NP_000323.2:n.-614-41891G>C
NM_001128164.1:c.-614-41891G>C	NP_001121636.1:n.-614-41891G>C
NM_001357857.1:c.-643-41891G>C	NP_001344786.1:n.-643-41891G>C
NM_001357857.2:c.-643-41891G>C	NP_001344786.1:n.-643-41891G>C
NM_001128164.2:c.-614-41891G>C MANE Select	NP_001121636.1:n.-614-41891G>C
NM_000332.4:c.-614-41891G>C	NP_000323.2:n.-614-41891G>C