Canonical Allele Identifier: CA135357097

Gene: ATXN1

Linked Data

• dbSNP Id: rs186730845
• gnomAD v2: 6-16699993-C-T
• gnomAD v3: 6-16699762-C-T
• gnomAD v4: 6-16699762-C-T
• MyVariant Identifiers: chr6:g.16699993C>T (hg19) ; chr6:g.16699762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16699762C>T , CM000668.2:g.16699762C>T	GRCh38
NC_000006.11:g.16699993C>T , CM000668.1:g.16699993C>T	GRCh37
NC_000006.10:g.16807972C>T	NCBI36
NG_011571.1:g.66729G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-614-41861G>A MANE Select	ENSP00000416360.1:n.-614-41861G>A
ENST00000643828.1:n.345-32210G>A
ENST00000646259.1:n.189-41861G>A
ENST00000675689.1:n.151-41861G>A
ENST00000244769.8:c.-614-41861G>A	ENSP00000244769.3:n.-614-41861G>A
ENST00000436367.5:c.-614-41861G>A	ENSP00000416360.1:n.-614-41861G>A
ENST00000473388.6:n.279-41861G>A
ENST00000483591.6:n.118-41861G>A
ENST00000483954.1:n.160-32210G>A
ENST00000495178.1:n.77-41861G>A
NM_000332.3:c.-614-41861G>A	NP_000323.2:n.-614-41861G>A
NM_001128164.1:c.-614-41861G>A	NP_001121636.1:n.-614-41861G>A
NM_001357857.1:c.-643-41861G>A	NP_001344786.1:n.-643-41861G>A
NM_001357857.2:c.-643-41861G>A	NP_001344786.1:n.-643-41861G>A
NM_001128164.2:c.-614-41861G>A MANE Select	NP_001121636.1:n.-614-41861G>A
NM_000332.4:c.-614-41861G>A	NP_000323.2:n.-614-41861G>A