Canonical Allele Identifier: CA9726989

Gene: SNPH

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.1305503C>T , CM000682.2:g.1305503C>T	GRCh38
NC_000020.10:g.1286147C>T , CM000682.1:g.1286147C>T	GRCh37
NC_000020.9:g.1234147C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001318234.2:c.1066C>T MANE Select	NP_001305163.1:p.Arg356Cys
ENST00000381867.6:c.1066C>T MANE Select	ENSP00000371291.1:p.Arg356Cys
NM_001318234.1:c.1066C>T	NP_001305163.1:p.Arg356Cys
NM_014723.2:c.934C>T	NP_055538.2:p.Arg312Cys
NM_014723.3:c.934C>T	NP_055538.2:p.Arg312Cys
NM_014723.4:c.934C>T	NP_055538.2:p.Arg312Cys
ENST00000381867.5:c.1066C>T	ENSP00000371291.1:p.Arg356Cys
ENST00000381873.7:c.934C>T	ENSP00000371297.3:p.Arg312Cys
ENST00000614659.1:c.1066C>T	ENSP00000479696.1:p.Arg356Cys
ENST00000649598.1:c.1033C>T	ENSP00000496966.1:p.Arg345Cys
XM_005260888.2:c.1066C>T	XP_005260945.1:p.Arg356Cys
XM_005260889.2:c.1033C>T	XP_005260946.1:p.Arg345Cys
XM_005260889.3:c.1033C>T	XP_005260946.1:p.Arg345Cys
XM_011529402.1:c.1165C>T	XP_011527704.1:p.Arg389Cys
XM_011529402.2:c.1165C>T	XP_011527704.1:p.Arg389Cys
XM_011529403.1:c.1165C>T	XP_011527705.1:p.Arg389Cys
XM_011529403.2:c.1165C>T	XP_011527705.1:p.Arg389Cys
XM_011529404.1:c.1033C>T	XP_011527706.1:p.Arg345Cys
XM_011529404.2:c.1033C>T	XP_011527706.1:p.Arg345Cys
XM_011529405.1:c.1033C>T	XP_011527707.1:p.Arg345Cys
XM_011529406.1:c.1033C>T	XP_011527708.1:p.Arg345Cys