Canonical Allele Identifier: CA248181421

Gene: SMAD9

Linked Data

• dbSNP Id: rs992527601
• gnomAD v3: 13-36879466-A-G
• gnomAD v4: 13-36879466-A-G
• MyVariant Identifiers: chr13:g.37453603A>G (hg19) ; chr13:g.36879466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879466A>G , CM000675.2:g.36879466A>G	GRCh38
NC_000013.10:g.37453603A>G , CM000675.1:g.37453603A>G	GRCh37
NC_000013.9:g.36351603A>G	NCBI36
NG_016963.1:g.45807T>C , LRG_703:g.45807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.663T>C
ENST00000350148.10:c.224T>C	ENSP00000239885.6:p.Leu75Pro
ENST00000379826.5:c.224T>C MANE Select	ENSP00000369154.4:p.Leu75Pro
ENST00000399275.7:c.224T>C	ENSP00000382216.3:p.Leu75Pro
ENST00000350148.9:c.224T>C	ENSP00000239885.6:p.Leu75Pro
ENST00000379826.4:c.224T>C	ENSP00000369154.4:p.Leu75Pro
ENST00000399275.6:c.224T>C	ENSP00000382216.2:p.Leu75Pro
ENST00000483941.1:n.541T>C
NM_001127217.2:c.224T>C , LRG_703t1:c.224T>C	NP_001120689.1:p.Leu75Pro
NM_005905.5:c.224T>C	NP_005896.1:p.Leu75Pro
XM_005266401.2:c.224T>C	XP_005266458.1:p.Leu75Pro
XM_005266403.2:c.224T>C	XP_005266460.1:p.Leu75Pro
XM_005266404.2:c.224T>C	XP_005266461.1:p.Leu75Pro
XM_006719827.2:c.224T>C	XP_006719890.1:p.Leu75Pro
XM_011535096.1:c.224T>C	XP_011533398.1:p.Leu75Pro
XM_005266401.3:c.224T>C	XP_005266458.1:p.Leu75Pro
XM_005266403.3:c.224T>C	XP_005266460.1:p.Leu75Pro
XM_005266404.3:c.224T>C	XP_005266461.1:p.Leu75Pro
XM_006719827.3:c.224T>C	XP_006719890.1:p.Leu75Pro
NM_001127217.3:c.224T>C MANE Select	NP_001120689.1:p.Leu75Pro
NM_005905.6:c.224T>C	NP_005896.1:p.Leu75Pro
NM_001378621.1:c.224T>C	NP_001365550.1:p.Leu75Pro