Canonical Allele Identifier: CA134935577

Gene: ATXN1

Linked Data

• dbSNP Id: rs931584958
• gnomAD v2: 6-16396730-T-C
• gnomAD v3: 6-16396499-T-C
• gnomAD v4: 6-16396499-T-C
• MyVariant Identifiers: chr6:g.16396730T>C (hg19) ; chr6:g.16396499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396499T>C , CM000668.2:g.16396499T>C	GRCh38
NC_000006.11:g.16396730T>C , CM000668.1:g.16396730T>C	GRCh37
NC_000006.10:g.16504709T>C	NCBI36
NG_011571.1:g.369992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-68029A>G MANE Select	ENSP00000416360.1:n.-160-68029A>G
ENST00000244769.8:c.-160-68029A>G	ENSP00000244769.3:n.-160-68029A>G
ENST00000436367.5:c.-160-68029A>G	ENSP00000416360.1:n.-160-68029A>G
NM_000332.3:c.-160-68029A>G	NP_000323.2:n.-160-68029A>G
NM_001128164.1:c.-160-68029A>G	NP_001121636.1:n.-160-68029A>G
NM_001357857.1:c.-189-68029A>G	NP_001344786.1:n.-189-68029A>G
NM_001357857.2:c.-189-68029A>G	NP_001344786.1:n.-189-68029A>G
NM_001128164.2:c.-160-68029A>G MANE Select	NP_001121636.1:n.-160-68029A>G
NM_000332.4:c.-160-68029A>G	NP_000323.2:n.-160-68029A>G