Canonical Allele Identifier: CA353429299

Gene: ATXN7

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.63980062C>T , CM000665.2:g.63980062C>T	GRCh38
NC_000003.11:g.63965738C>T , CM000665.1:g.63965738C>T	GRCh37
NC_000003.10:g.63940778C>T	NCBI36
NG_008227.1:g.120506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522345.2:c.647C>T	ENSP00000428067.2:p.Ser216Leu
ENST00000674280.1:c.647C>T MANE Select	ENSP00000501377.1:p.Ser216Leu
ENST00000295900.10:c.647C>T	ENSP00000295900.6:p.Ser216Leu
ENST00000474112.5:n.1200C>T
ENST00000475897.1:n.317C>T
ENST00000484332.1:c.212C>T	ENSP00000428277.1:p.Ser71Leu
ENST00000487717.5:c.647C>T	ENSP00000420234.1:p.Ser216Leu
ENST00000488239.1:n.242C>T
ENST00000538065.5:c.647C>T	ENSP00000439585.1:p.Ser216Leu
NM_000333.3:c.647C>T	NP_000324.1:p.Ser216Leu
NM_001128149.2:c.212C>T	NP_001121621.2:p.Ser71Leu
NM_001177387.1:c.647C>T	NP_001170858.1:p.Ser216Leu
NM_000333.4:c.647C>T	NP_000324.1:p.Ser216Leu
NM_001128149.3:c.212C>T	NP_001121621.2:p.Ser71Leu
NM_001377405.1:c.647C>T MANE Select	NP_001364334.1:p.Ser216Leu
NM_001377406.1:c.647C>T	NP_001364335.1:p.Ser216Leu