Canonical Allele Identifier: CA448955375
Gene: ATXN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.16327813C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16327582C>T , CM000668.2:g.16327582C>T GRCh38
NC_000006.11:g.16327813C>T , CM000668.1:g.16327813C>T GRCh37
NC_000006.10:g.16435792C>T NCBI36
NG_011571.1:g.438909G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436367.6:c.729G>A MANE Select ENSP00000416360.1:p.Gln243=
ENST00000244769.8:c.729G>A ENSP00000244769.3:p.Gln243=
ENST00000436367.5:c.729G>A ENSP00000416360.1:p.Gln243=
NM_000332.3:c.729G>A NP_000323.2:p.Gln243=
NM_001128164.1:c.729G>A NP_001121636.1:p.Gln243=
NM_001357857.1:c.*142G>A NP_001344786.1:n.*142G>A
NM_001357857.2:c.*142G>A NP_001344786.1:n.*142G>A
NM_001128164.2:c.729G>A MANE Select NP_001121636.1:p.Gln243=
NM_000332.4:c.729G>A NP_000323.2:p.Gln243=
Search 100 bp 5'
Search 100 bp 3'