Canonical Allele Identifier: CA211247

Gene: SMAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36872722G>T , CM000675.2:g.36872722G>T	GRCh38
NC_000013.10:g.37446859G>T , CM000675.1:g.37446859G>T	GRCh37
NC_000013.9:g.36344859G>T	NCBI36
NG_016963.1:g.52551C>A , LRG_703:g.52551C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001127217.3:c.606C>A MANE Select	NP_001120689.1:p.Cys202Ter
ENST00000379826.5:c.606C>A MANE Select	ENSP00000369154.4:p.Cys202Ter
NM_001127217.2:c.606C>A , LRG_703t1:c.606C>A	NP_001120689.1:p.Cys202Ter
NM_001378621.1:c.606C>A	NP_001365550.1:p.Cys202Ter
NM_005905.5:c.606C>A	NP_005896.1:p.Cys202Ter
NM_005905.6:c.606C>A	NP_005896.1:p.Cys202Ter
ENST00000350148.10:c.606C>A	ENSP00000239885.6:p.Cys202Ter
ENST00000350148.9:c.606C>A	ENSP00000239885.6:p.Cys202Ter
ENST00000379826.4:c.606C>A	ENSP00000369154.4:p.Cys202Ter
ENST00000399275.6:c.606C>A	ENSP00000382216.2:p.Cys202Ter
ENST00000399275.7:c.*316C>A	ENSP00000382216.3:n.*316C>A
XM_005266401.2:c.606C>A	XP_005266458.1:p.Cys202Ter
XM_005266401.3:c.606C>A	XP_005266458.1:p.Cys202Ter
XM_005266403.2:c.413-5339C>A	XP_005266460.1:n.413-5339C>A
XM_005266403.3:c.413-5339C>A	XP_005266460.1:n.413-5339C>A
XM_005266404.2:c.412+6556C>A	XP_005266461.1:n.412+6556C>A
XM_005266404.3:c.412+6556C>A	XP_005266461.1:n.412+6556C>A
XM_006719827.2:c.606C>A	XP_006719890.1:p.Cys202Ter
XM_006719827.3:c.606C>A	XP_006719890.1:p.Cys202Ter
XM_011535096.1:c.606C>A	XP_011533398.1:p.Cys202Ter