Canonical Allele Identifier: CA134922358

Gene: ATXN1

Linked Data

• dbSNP Id: rs996037171
• gnomAD v3: 6-16318349-T-C
• gnomAD v4: 6-16318349-T-C
• MyVariant Identifiers: chr6:g.16318580T>C (hg19) ; chr6:g.16318349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16318349T>C , CM000668.2:g.16318349T>C	GRCh38
NC_000006.11:g.16318580T>C , CM000668.1:g.16318580T>C	GRCh37
NC_000006.10:g.16426559T>C	NCBI36
NG_011571.1:g.448142A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.1917+8045A>G MANE Select	ENSP00000416360.1:n.1917+8045A>G
ENST00000244769.8:c.1917+8045A>G	ENSP00000244769.3:n.1917+8045A>G
ENST00000436367.5:c.1917+8045A>G	ENSP00000416360.1:n.1917+8045A>G
NM_000332.3:c.1917+8045A>G	NP_000323.2:n.1917+8045A>G
NM_001128164.1:c.1917+8045A>G	NP_001121636.1:n.1917+8045A>G
NM_001357857.1:c.*1330+8045A>G	NP_001344786.1:n.*1330+8045A>G
NM_001357857.2:c.*1330+8045A>G	NP_001344786.1:n.*1330+8045A>G
NM_001128164.2:c.1917+8045A>G MANE Select	NP_001121636.1:n.1917+8045A>G
NM_000332.4:c.1917+8045A>G	NP_000323.2:n.1917+8045A>G