Canonical Allele Identifier: CA3645230

Gene: ATXN1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16326380C>A , CM000668.2:g.16326380C>A	GRCh38
NC_000006.11:g.16326611C>A , CM000668.1:g.16326611C>A	GRCh37
NC_000006.10:g.16434590C>A	NCBI36
NG_011571.1:g.440111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436367.6:c.1917+14G>T MANE Select	ENSP00000416360.1:n.1917+14G>T
ENST00000244769.8:c.1917+14G>T	ENSP00000244769.3:n.1917+14G>T
ENST00000436367.5:c.1917+14G>T	ENSP00000416360.1:n.1917+14G>T
NM_000332.3:c.1917+14G>T	NP_000323.2:n.1917+14G>T
NM_001128164.1:c.1917+14G>T	NP_001121636.1:n.1917+14G>T
NM_001357857.1:c.*1330+14G>T	NP_001344786.1:n.*1330+14G>T
NM_001357857.2:c.*1330+14G>T	NP_001344786.1:n.*1330+14G>T
NM_001128164.2:c.1917+14G>T MANE Select	NP_001121636.1:n.1917+14G>T
NM_000332.4:c.1917+14G>T	NP_000323.2:n.1917+14G>T