Canonical Allele Identifier: CA135357096

Gene: ATXN1

Linked Data

• dbSNP Id: rs116443813
• gnomAD v2: 6-16699983-G-T
• gnomAD v3: 6-16699752-G-T
• gnomAD v4: 6-16699752-G-T
• MyVariant Identifiers: chr6:g.16699983G>T (hg19) ; chr6:g.16699752G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699752G>T , CM000668.2:g.16699752G>T	GRCh38
NC_000006.11:g.16699983G>T , CM000668.1:g.16699983G>T	GRCh37
NC_000006.10:g.16807962G>T	NCBI36
NG_011571.1:g.66739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-614-41851C>A MANE Select	ENSP00000416360.1:n.-614-41851C>A
ENST00000643828.1:n.345-32200C>A
ENST00000646259.1:n.189-41851C>A
ENST00000675689.1:n.151-41851C>A
ENST00000244769.8:c.-614-41851C>A	ENSP00000244769.3:n.-614-41851C>A
ENST00000436367.5:c.-614-41851C>A	ENSP00000416360.1:n.-614-41851C>A
ENST00000473388.6:n.279-41851C>A
ENST00000483591.6:n.118-41851C>A
ENST00000483954.1:n.160-32200C>A
ENST00000495178.1:n.77-41851C>A
NM_000332.3:c.-614-41851C>A	NP_000323.2:n.-614-41851C>A
NM_001128164.1:c.-614-41851C>A	NP_001121636.1:n.-614-41851C>A
NM_001357857.1:c.-643-41851C>A	NP_001344786.1:n.-643-41851C>A
NM_001357857.2:c.-643-41851C>A	NP_001344786.1:n.-643-41851C>A
NM_001128164.2:c.-614-41851C>A MANE Select	NP_001121636.1:n.-614-41851C>A
NM_000332.4:c.-614-41851C>A	NP_000323.2:n.-614-41851C>A