Canonical Allele Identifier: CA387852909

Gene: SMAD9

Linked Data

• ClinVar Variation Id: 1019667
• ClinVar RCV Id: RCV001319132
• dbSNP Id: rs1453268397
• gnomAD v2: 13-37453609-C-T
• gnomAD v4: 13-36879472-C-T
• MyVariant Identifiers: chr13:g.37453609C>T (hg19) ; chr13:g.36879472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879472C>T , CM000675.2:g.36879472C>T	GRCh38
NC_000013.10:g.37453609C>T , CM000675.1:g.37453609C>T	GRCh37
NC_000013.9:g.36351609C>T	NCBI36
NG_016963.1:g.45801G>A , LRG_703:g.45801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000483941.2:n.657G>A
ENST00000350148.10:c.218G>A	ENSP00000239885.6:p.Arg73His
ENST00000379826.5:c.218G>A MANE Select	ENSP00000369154.4:p.Arg73His
ENST00000399275.7:c.218G>A	ENSP00000382216.3:p.Arg73His
ENST00000350148.9:c.218G>A	ENSP00000239885.6:p.Arg73His
ENST00000379826.4:c.218G>A	ENSP00000369154.4:p.Arg73His
ENST00000399275.6:c.218G>A	ENSP00000382216.2:p.Arg73His
ENST00000483941.1:n.535G>A
NM_001127217.2:c.218G>A , LRG_703t1:c.218G>A	NP_001120689.1:p.Arg73His
NM_005905.5:c.218G>A	NP_005896.1:p.Arg73His
XM_005266401.2:c.218G>A	XP_005266458.1:p.Arg73His
XM_005266403.2:c.218G>A	XP_005266460.1:p.Arg73His
XM_005266404.2:c.218G>A	XP_005266461.1:p.Arg73His
XM_006719827.2:c.218G>A	XP_006719890.1:p.Arg73His
XM_011535096.1:c.218G>A	XP_011533398.1:p.Arg73His
XM_005266401.3:c.218G>A	XP_005266458.1:p.Arg73His
XM_005266403.3:c.218G>A	XP_005266460.1:p.Arg73His
XM_005266404.3:c.218G>A	XP_005266461.1:p.Arg73His
XM_006719827.3:c.218G>A	XP_006719890.1:p.Arg73His
NM_001127217.3:c.218G>A MANE Select	NP_001120689.1:p.Arg73His
NM_005905.6:c.218G>A	NP_005896.1:p.Arg73His
NM_001378621.1:c.218G>A	NP_001365550.1:p.Arg73His