Canonical Allele Identifier: CA134935442

Gene: ATXN1

Linked Data

• dbSNP Id: rs1056933215
• gnomAD v3: 6-16396202-C-A
• gnomAD v4: 6-16396202-C-A
• MyVariant Identifiers: chr6:g.16396433C>A (hg19) ; chr6:g.16396202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396202C>A , CM000668.2:g.16396202C>A	GRCh38
NC_000006.11:g.16396433C>A , CM000668.1:g.16396433C>A	GRCh37
NC_000006.10:g.16504412C>A	NCBI36
NG_011571.1:g.370289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67732G>T MANE Select	ENSP00000416360.1:n.-160-67732G>T
ENST00000244769.8:c.-160-67732G>T	ENSP00000244769.3:n.-160-67732G>T
ENST00000436367.5:c.-160-67732G>T	ENSP00000416360.1:n.-160-67732G>T
NM_000332.3:c.-160-67732G>T	NP_000323.2:n.-160-67732G>T
NM_001128164.1:c.-160-67732G>T	NP_001121636.1:n.-160-67732G>T
NM_001357857.1:c.-189-67732G>T	NP_001344786.1:n.-189-67732G>T
NM_001357857.2:c.-189-67732G>T	NP_001344786.1:n.-189-67732G>T
NM_001128164.2:c.-160-67732G>T MANE Select	NP_001121636.1:n.-160-67732G>T
NM_000332.4:c.-160-67732G>T	NP_000323.2:n.-160-67732G>T