Canonical Allele Identifier: CA362811993

Gene: ATXN1

Linked Data

• MyVariant Identifiers: chr6:g.16327809T>A (hg19) ; chr6:g.16327578T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327578T>A , CM000668.2:g.16327578T>A	GRCh38
NC_000006.11:g.16327809T>A , CM000668.1:g.16327809T>A	GRCh37
NC_000006.10:g.16435788T>A	NCBI36
NG_011571.1:g.438913A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.733A>T MANE Select	ENSP00000416360.1:p.Asn245Tyr
ENST00000244769.8:c.733A>T	ENSP00000244769.3:p.Asn245Tyr
ENST00000436367.5:c.733A>T	ENSP00000416360.1:p.Asn245Tyr
NM_000332.3:c.733A>T	NP_000323.2:p.Asn245Tyr
NM_001128164.1:c.733A>T	NP_001121636.1:p.Asn245Tyr
NM_001357857.1:c.*146A>T	NP_001344786.1:n.*146A>T
NM_001357857.2:c.*146A>T	NP_001344786.1:n.*146A>T
NM_001128164.2:c.733A>T MANE Select	NP_001121636.1:p.Asn245Tyr
NM_000332.4:c.733A>T	NP_000323.2:p.Asn245Tyr