Canonical Allele Identifier: CA387872107

Gene: SMAD9

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36872898C>G , CM000675.2:g.36872898C>G	GRCh38
NC_000013.10:g.37447035C>G , CM000675.1:g.37447035C>G	GRCh37
NC_000013.9:g.36345035C>G	NCBI36
NG_016963.1:g.52375G>C , LRG_703:g.52375G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127217.3:c.430G>C MANE Select	NP_001120689.1:p.Val144Leu
ENST00000379826.5:c.430G>C MANE Select	ENSP00000369154.4:p.Val144Leu
NM_001127217.2:c.430G>C , LRG_703t1:c.430G>C	NP_001120689.1:p.Val144Leu
NM_001378621.1:c.430G>C	NP_001365550.1:p.Val144Leu
NM_005905.5:c.430G>C	NP_005896.1:p.Val144Leu
NM_005905.6:c.430G>C	NP_005896.1:p.Val144Leu
ENST00000350148.10:c.430G>C	ENSP00000239885.6:p.Val144Leu
ENST00000350148.9:c.430G>C	ENSP00000239885.6:p.Val144Leu
ENST00000379826.4:c.430G>C	ENSP00000369154.4:p.Val144Leu
ENST00000399275.6:c.430G>C	ENSP00000382216.2:p.Val144Leu
ENST00000399275.7:c.*140G>C	ENSP00000382216.3:n.*140G>C
XM_005266401.2:c.430G>C	XP_005266458.1:p.Val144Leu
XM_005266401.3:c.430G>C	XP_005266458.1:p.Val144Leu
XM_005266403.2:c.413-5515G>C	XP_005266460.1:n.413-5515G>C
XM_005266403.3:c.413-5515G>C	XP_005266460.1:n.413-5515G>C
XM_005266404.2:c.412+6380G>C	XP_005266461.1:n.412+6380G>C
XM_005266404.3:c.412+6380G>C	XP_005266461.1:n.412+6380G>C
XM_006719827.2:c.430G>C	XP_006719890.1:p.Val144Leu
XM_006719827.3:c.430G>C	XP_006719890.1:p.Val144Leu
XM_011535096.1:c.430G>C	XP_011533398.1:p.Val144Leu