Canonical Allele Identifier: CA2084874397

Gene: SMAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36865660G= , CM000675.2:g.36865660G=	GRCh38
NC_000013.10:g.37439797G= , CM000675.1:g.37439797G=	GRCh37
NC_000013.9:g.36337797G=	NCBI36
NG_016963.1:g.59613C= , LRG_703:g.59613C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001127217.3:c.880C= MANE Select	NP_001120689.1:p.Arg294=
ENST00000379826.5:c.880C= MANE Select	ENSP00000369154.4:p.Arg294=
NM_001127217.2:c.880C= , LRG_703t1:c.880C=	NP_001120689.1:p.Arg294=
NM_001378621.1:c.769C=	NP_001365550.1:p.Arg257=
NM_005905.5:c.769C=	NP_005896.1:p.Arg257=
NM_005905.6:c.769C=	NP_005896.1:p.Arg257=
ENST00000350148.10:c.769C=	ENSP00000239885.6:p.Arg257=
ENST00000350148.9:c.769C=	ENSP00000239885.6:p.Arg257=
ENST00000379826.4:c.880C=	ENSP00000369154.4:p.Arg294=
ENST00000399275.6:c.880C=	ENSP00000382216.2:p.Arg294=
ENST00000399275.7:c.*479C=	ENSP00000382216.3:n.*479C=
XM_005266401.2:c.769C=	XP_005266458.1:p.Arg257=
XM_005266401.3:c.769C=	XP_005266458.1:p.Arg257=
XM_005266403.2:c.622C=	XP_005266460.1:p.Arg208=
XM_005266403.3:c.622C=	XP_005266460.1:p.Arg208=
XM_005266404.2:c.511C=	XP_005266461.1:p.Arg171=
XM_005266404.3:c.511C=	XP_005266461.1:p.Arg171=
XM_006719827.2:c.880C=	XP_006719890.1:p.Arg294=
XM_006719827.3:c.880C=	XP_006719890.1:p.Arg294=
XM_011535096.1:c.880C=	XP_011533398.1:p.Arg294=