Canonical Allele Identifier: CA6950615

Gene: SMAD9

Linked Data

• dbSNP Id: rs762725302
• ExAC: 13:37453594 C / T
• gnomAD v2: 13-37453594-C-T
• gnomAD v4: 13-36879457-C-T
• COSMIC: COSM5913527 ; COSM5913528
• MyVariant Identifiers: chr13:g.37453594C>T (hg19) ; chr13:g.37453594_37453628delinsTGCCCGTCCAGGGAGCGGGGAATCGTGACGCATTT (hg19) ; chr13:g.36879457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879457C>T , CM000675.2:g.36879457C>T	GRCh38
NC_000013.10:g.37453594C>T , CM000675.1:g.37453594C>T	GRCh37
NC_000013.9:g.36351594C>T	NCBI36
NG_016963.1:g.45816G>A , LRG_703:g.45816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350148.10:c.233G>A	ENSP00000239885.6:p.Arg78Gln
ENST00000379826.5:c.233G>A MANE Select	ENSP00000369154.4:p.Arg78Gln
ENST00000399275.7:c.233G>A	ENSP00000382216.3:p.Arg78Gln
ENST00000350148.9:c.233G>A	ENSP00000239885.6:p.Arg78Gln
ENST00000379826.4:c.233G>A	ENSP00000369154.4:p.Arg78Gln
ENST00000399275.6:c.233G>A	ENSP00000382216.2:p.Arg78Gln
NM_001127217.2:c.233G>A , LRG_703t1:c.233G>A	NP_001120689.1:p.Arg78Gln
NM_005905.5:c.233G>A	NP_005896.1:p.Arg78Gln
XM_005266401.2:c.233G>A	XP_005266458.1:p.Arg78Gln
XM_005266403.2:c.233G>A	XP_005266460.1:p.Arg78Gln
XM_005266404.2:c.233G>A	XP_005266461.1:p.Arg78Gln
XM_006719827.2:c.233G>A	XP_006719890.1:p.Arg78Gln
XM_011535096.1:c.233G>A	XP_011533398.1:p.Arg78Gln
XM_005266401.3:c.233G>A	XP_005266458.1:p.Arg78Gln
XM_005266403.3:c.233G>A	XP_005266460.1:p.Arg78Gln
XM_005266404.3:c.233G>A	XP_005266461.1:p.Arg78Gln
XM_006719827.3:c.233G>A	XP_006719890.1:p.Arg78Gln
NM_001127217.3:c.233G>A MANE Select	NP_001120689.1:p.Arg78Gln
NM_005905.6:c.233G>A	NP_005896.1:p.Arg78Gln
NM_001378621.1:c.233G>A	NP_001365550.1:p.Arg78Gln