Canonical Allele Identifier: CA448955381

Gene: ATXN1

Linked Data

• MyVariant Identifiers: chr6:g.16327819T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327588T>A , CM000668.2:g.16327588T>A	GRCh38
NC_000006.11:g.16327819T>A , CM000668.1:g.16327819T>A	GRCh37
NC_000006.10:g.16435798T>A	NCBI36
NG_011571.1:g.438903A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.723A>T MANE Select	ENSP00000416360.1:p.Pro241=
ENST00000244769.8:c.723A>T	ENSP00000244769.3:p.Pro241=
ENST00000436367.5:c.723A>T	ENSP00000416360.1:p.Pro241=
NM_000332.3:c.723A>T	NP_000323.2:p.Pro241=
NM_001128164.1:c.723A>T	NP_001121636.1:p.Pro241=
NM_001357857.1:c.*136A>T	NP_001344786.1:n.*136A>T
NM_001357857.2:c.*136A>T	NP_001344786.1:n.*136A>T
NM_001128164.2:c.723A>T MANE Select	NP_001121636.1:p.Pro241=
NM_000332.4:c.723A>T	NP_000323.2:p.Pro241=