Canonical Allele Identifier: CA9835821

Gene: SPAG4

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35620939C>T , CM000682.2:g.35620939C>T	GRCh38
NC_000020.10:g.34208861C>T , CM000682.1:g.34208861C>T	GRCh37
NC_000020.9:g.33672275C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003116.3:c.1231C>T MANE Select	NP_003107.1:p.Arg411Cys
ENST00000374273.8:c.1231C>T MANE Select	ENSP00000363391.3:p.Arg411Cys
NM_001317931.1:c.1000C>T	NP_001304860.1:p.Arg334Cys
NM_003116.1:c.1231C>T	NP_003107.1:p.Arg411Cys
NM_003116.2:c.1231C>T	NP_003107.1:p.Arg411Cys
ENST00000374273.7:c.1231C>T	ENSP00000363391.3:p.Arg411Cys
ENST00000430878.1:c.343C>T	ENSP00000399231.1:p.Arg115Cys
ENST00000679710.1:c.1000C>T	ENSP00000505928.1:p.Arg334Cys
XM_005260519.3:c.1000C>T	XP_005260576.1:p.Arg334Cys
XM_005260520.3:c.952C>T	XP_005260577.1:p.Arg318Cys
XM_005260520.4:c.952C>T	XP_005260577.1:p.Arg318Cys
XM_011529009.1:c.1099C>T	XP_011527311.1:p.Arg367Cys
XM_011529009.2:c.1099C>T	XP_011527311.1:p.Arg367Cys
XM_011529010.1:c.1054C>T	XP_011527312.1:p.Arg352Cys
XM_011529011.1:c.715C>T	XP_011527313.1:p.Arg239Cys