Canonical Allele Identifier: CA2478430

Gene: ATXN7

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.63982413A>G , CM000665.2:g.63982413A>G	GRCh38
NC_000003.11:g.63968089A>G , CM000665.1:g.63968089A>G	GRCh37
NC_000003.10:g.63943129A>G	NCBI36
NG_008227.1:g.122857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522345.2:c.980A>G	ENSP00000428067.2:p.Asn327Ser
ENST00000674280.1:c.980A>G MANE Select	ENSP00000501377.1:p.Asn327Ser
ENST00000295900.10:c.980A>G	ENSP00000295900.6:p.Asn327Ser
ENST00000466529.1:n.227A>G
ENST00000474112.5:n.1533A>G
ENST00000484332.1:c.545A>G	ENSP00000428277.1:p.Asn182Ser
ENST00000487717.5:c.980A>G	ENSP00000420234.1:p.Asn327Ser
ENST00000488239.1:n.575A>G
ENST00000538065.5:c.980A>G	ENSP00000439585.1:p.Asn327Ser
NM_000333.3:c.980A>G	NP_000324.1:p.Asn327Ser
NM_001128149.2:c.545A>G	NP_001121621.2:p.Asn182Ser
NM_001177387.1:c.980A>G	NP_001170858.1:p.Asn327Ser
NM_000333.4:c.980A>G	NP_000324.1:p.Asn327Ser
NM_001128149.3:c.545A>G	NP_001121621.2:p.Asn182Ser
NM_001377405.1:c.980A>G MANE Select	NP_001364334.1:p.Asn327Ser
NM_001377406.1:c.980A>G	NP_001364335.1:p.Asn327Ser