Canonical Allele Identifier: CA353436770

Gene: ATXN7

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.63995975C>G , CM000665.2:g.63995975C>G	GRCh38
NC_000003.11:g.63981651C>G , CM000665.1:g.63981651C>G	GRCh37
NC_000003.10:g.63956691C>G	NCBI36
NG_008227.1:g.136419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522345.2:c.2153C>G	ENSP00000428067.2:p.Ser718Cys
ENST00000674280.1:c.2153C>G MANE Select	ENSP00000501377.1:p.Ser718Cys
ENST00000295900.10:c.2153C>G	ENSP00000295900.6:p.Ser718Cys
ENST00000474112.5:n.2706C>G
ENST00000484332.1:c.1718C>G	ENSP00000428277.1:p.Ser573Cys
ENST00000487717.5:c.2153C>G	ENSP00000420234.1:p.Ser718Cys
ENST00000538065.5:c.2153C>G	ENSP00000439585.1:p.Ser718Cys
NM_000333.3:c.2153C>G	NP_000324.1:p.Ser718Cys
NM_001128149.2:c.1718C>G	NP_001121621.2:p.Ser573Cys
NM_001177387.1:c.2153C>G	NP_001170858.1:p.Ser718Cys
NM_000333.4:c.2153C>G	NP_000324.1:p.Ser718Cys
NM_001128149.3:c.1718C>G	NP_001121621.2:p.Ser573Cys
NM_001377405.1:c.2153C>G MANE Select	NP_001364334.1:p.Ser718Cys
NM_001377406.1:c.2153C>G	NP_001364335.1:p.Ser718Cys