Canonical Allele Identifier: CA362812010

Gene: ATXN1

Linked Data

• MyVariant Identifiers: chr6:g.16327817G>A (hg19) ; chr6:g.16327586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327586G>A , CM000668.2:g.16327586G>A	GRCh38
NC_000006.11:g.16327817G>A , CM000668.1:g.16327817G>A	GRCh37
NC_000006.10:g.16435796G>A	NCBI36
NG_011571.1:g.438905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.725C>T MANE Select	ENSP00000416360.1:p.Ala242Val
ENST00000244769.8:c.725C>T	ENSP00000244769.3:p.Ala242Val
ENST00000436367.5:c.725C>T	ENSP00000416360.1:p.Ala242Val
NM_000332.3:c.725C>T	NP_000323.2:p.Ala242Val
NM_001128164.1:c.725C>T	NP_001121636.1:p.Ala242Val
NM_001357857.1:c.*138C>T	NP_001344786.1:n.*138C>T
NM_001357857.2:c.*138C>T	NP_001344786.1:n.*138C>T
NM_001128164.2:c.725C>T MANE Select	NP_001121636.1:p.Ala242Val
NM_000332.4:c.725C>T	NP_000323.2:p.Ala242Val