Canonical Allele Identifier: CA6950368

Gene: SMAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36853523T>C , CM000675.2:g.36853523T>C	GRCh38
NC_000013.10:g.37427660T>C , CM000675.1:g.37427660T>C	GRCh37
NC_000013.9:g.36325660T>C	NCBI36
NG_016963.1:g.71750A>G , LRG_703:g.71750A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127217.3:c.1156A>G MANE Select	NP_001120689.1:p.Asn386Asp
ENST00000379826.5:c.1156A>G MANE Select	ENSP00000369154.4:p.Asn386Asp
NM_001127217.2:c.1156A>G , LRG_703t1:c.1156A>G	NP_001120689.1:p.Asn386Asp
NM_001378621.1:c.1045A>G	NP_001365550.1:p.Asn349Asp
NM_005905.5:c.1045A>G	NP_005896.1:p.Asn349Asp
NM_005905.6:c.1045A>G	NP_005896.1:p.Asn349Asp
ENST00000350148.10:c.1045A>G	ENSP00000239885.6:p.Asn349Asp
ENST00000350148.9:c.1045A>G	ENSP00000239885.6:p.Asn349Asp
ENST00000379826.4:c.1156A>G	ENSP00000369154.4:p.Asn386Asp
ENST00000399275.6:c.1156A>G	ENSP00000382216.2:p.Asn386Asp
ENST00000399275.7:c.*755A>G	ENSP00000382216.3:n.*755A>G
XM_005266401.2:c.1045A>G	XP_005266458.1:p.Asn349Asp
XM_005266401.3:c.1045A>G	XP_005266458.1:p.Asn349Asp
XM_005266403.2:c.898A>G	XP_005266460.1:p.Asn300Asp
XM_005266403.3:c.898A>G	XP_005266460.1:p.Asn300Asp
XM_005266404.2:c.787A>G	XP_005266461.1:p.Asn263Asp
XM_005266404.3:c.787A>G	XP_005266461.1:p.Asn263Asp
XM_006719827.2:c.1156A>G	XP_006719890.1:p.Asn386Asp
XM_006719827.3:c.1156A>G	XP_006719890.1:p.Asn386Asp
XM_011535096.1:c.1156A>G	XP_011533398.1:p.Asn386Asp