Canonical Allele Identifier: CA821903334

Gene: ATXN1

Linked Data

• dbSNP Id: rs980135366
• gnomAD v3: 6-16396368-C-T
• gnomAD v4: 6-16396368-C-T
• MyVariant Identifiers: chr6:g.16396599C>T (hg19) ; chr6:g.16396368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396368C>T , CM000668.2:g.16396368C>T	GRCh38
NC_000006.11:g.16396599C>T , CM000668.1:g.16396599C>T	GRCh37
NC_000006.10:g.16504578C>T	NCBI36
NG_011571.1:g.370123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.-160-67898G>A MANE Select	ENSP00000416360.1:n.-160-67898G>A
ENST00000244769.8:c.-160-67898G>A	ENSP00000244769.3:n.-160-67898G>A
ENST00000436367.5:c.-160-67898G>A	ENSP00000416360.1:n.-160-67898G>A
NM_000332.3:c.-160-67898G>A	NP_000323.2:n.-160-67898G>A
NM_001128164.1:c.-160-67898G>A	NP_001121636.1:n.-160-67898G>A
NM_001357857.1:c.-189-67898G>A	NP_001344786.1:n.-189-67898G>A
NM_001357857.2:c.-189-67898G>A	NP_001344786.1:n.-189-67898G>A
NM_001128164.2:c.-160-67898G>A MANE Select	NP_001121636.1:n.-160-67898G>A
NM_000332.4:c.-160-67898G>A	NP_000323.2:n.-160-67898G>A