Canonical Allele Identifier: CA362812008

Gene: ATXN1

Linked Data

• MyVariant Identifiers: chr6:g.16327815G>C (hg19) ; chr6:g.16327584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16327584G>C , CM000668.2:g.16327584G>C	GRCh38
NC_000006.11:g.16327815G>C , CM000668.1:g.16327815G>C	GRCh37
NC_000006.10:g.16435794G>C	NCBI36
NG_011571.1:g.438907C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.727C>G MANE Select	ENSP00000416360.1:p.Gln243Glu
ENST00000244769.8:c.727C>G	ENSP00000244769.3:p.Gln243Glu
ENST00000436367.5:c.727C>G	ENSP00000416360.1:p.Gln243Glu
NM_000332.3:c.727C>G	NP_000323.2:p.Gln243Glu
NM_001128164.1:c.727C>G	NP_001121636.1:p.Gln243Glu
NM_001357857.1:c.*140C>G	NP_001344786.1:n.*140C>G
NM_001357857.2:c.*140C>G	NP_001344786.1:n.*140C>G
NM_001128164.2:c.727C>G MANE Select	NP_001121636.1:p.Gln243Glu
NM_000332.4:c.727C>G	NP_000323.2:p.Gln243Glu