Canonical Allele Identifier: CA565546654

Gene: ATXN1

Linked Data

• dbSNP Id: rs535235243
• gnomAD v2: 6-16396413-A-G
• gnomAD v3: 6-16396182-A-G
• gnomAD v4: 6-16396182-A-G
• MyVariant Identifiers: chr6:g.16396413A>G (hg19) ; chr6:g.16396182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16396182A>G , CM000668.2:g.16396182A>G	GRCh38
NC_000006.11:g.16396413A>G , CM000668.1:g.16396413A>G	GRCh37
NC_000006.10:g.16504392A>G	NCBI36
NG_011571.1:g.370309T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-160-67712T>C MANE Select	ENSP00000416360.1:n.-160-67712T>C
ENST00000244769.8:c.-160-67712T>C	ENSP00000244769.3:n.-160-67712T>C
ENST00000436367.5:c.-160-67712T>C	ENSP00000416360.1:n.-160-67712T>C
NM_000332.3:c.-160-67712T>C	NP_000323.2:n.-160-67712T>C
NM_001128164.1:c.-160-67712T>C	NP_001121636.1:n.-160-67712T>C
NM_001357857.1:c.-189-67712T>C	NP_001344786.1:n.-189-67712T>C
NM_001357857.2:c.-189-67712T>C	NP_001344786.1:n.-189-67712T>C
NM_001128164.2:c.-160-67712T>C MANE Select	NP_001121636.1:n.-160-67712T>C
NM_000332.4:c.-160-67712T>C	NP_000323.2:n.-160-67712T>C