Canonical Allele Identifier: CA358871
Gene: SMAD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 225173
ClinVar RCV Id: RCV000210830
dbSNP Id: rs869320699

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36879422C>T , CM000675.2:g.36879422C>T GRCh38
NC_000013.10:g.37453559C>T , CM000675.1:g.37453559C>T GRCh37
NC_000013.9:g.36351559C>T NCBI36
NG_016963.1:g.45851G>A , LRG_703:g.45851G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350148.10:c.268G>A ENSP00000239885.6:p.Val90Met
ENST00000379826.5:c.268G>A MANE Select ENSP00000369154.4:p.Val90Met
ENST00000399275.7:c.268G>A ENSP00000382216.3:p.Val90Met
ENST00000350148.9:c.268G>A ENSP00000239885.6:p.Val90Met
ENST00000379826.4:c.268G>A ENSP00000369154.4:p.Val90Met
ENST00000399275.6:c.268G>A ENSP00000382216.2:p.Val90Met
NM_001127217.2:c.268G>A , LRG_703t1:c.268G>A NP_001120689.1:p.Val90Met
NM_005905.5:c.268G>A NP_005896.1:p.Val90Met
XM_005266401.2:c.268G>A XP_005266458.1:p.Val90Met
XM_005266403.2:c.268G>A XP_005266460.1:p.Val90Met
XM_005266404.2:c.268G>A XP_005266461.1:p.Val90Met
XM_006719827.2:c.268G>A XP_006719890.1:p.Val90Met
XM_011535096.1:c.268G>A XP_011533398.1:p.Val90Met
XM_005266401.3:c.268G>A XP_005266458.1:p.Val90Met
XM_005266403.3:c.268G>A XP_005266460.1:p.Val90Met
XM_005266404.3:c.268G>A XP_005266461.1:p.Val90Met
XM_006719827.3:c.268G>A XP_006719890.1:p.Val90Met
NM_001127217.3:c.268G>A MANE Select NP_001120689.1:p.Val90Met
NM_005905.6:c.268G>A NP_005896.1:p.Val90Met
NM_001378621.1:c.268G>A NP_001365550.1:p.Val90Met