Canonical Allele Identifier: CA387852871

Gene: SMAD9

Linked Data

• MyVariant Identifiers: chr13:g.37453600T>G (hg19) ; chr13:g.36879463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879463T>G , CM000675.2:g.36879463T>G	GRCh38
NC_000013.10:g.37453600T>G , CM000675.1:g.37453600T>G	GRCh37
NC_000013.9:g.36351600T>G	NCBI36
NG_016963.1:g.45810A>C , LRG_703:g.45810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483941.2:n.666A>C
ENST00000350148.10:c.227A>C	ENSP00000239885.6:p.Asp76Ala
ENST00000379826.5:c.227A>C MANE Select	ENSP00000369154.4:p.Asp76Ala
ENST00000399275.7:c.227A>C	ENSP00000382216.3:p.Asp76Ala
ENST00000350148.9:c.227A>C	ENSP00000239885.6:p.Asp76Ala
ENST00000379826.4:c.227A>C	ENSP00000369154.4:p.Asp76Ala
ENST00000399275.6:c.227A>C	ENSP00000382216.2:p.Asp76Ala
ENST00000483941.1:n.544A>C
NM_001127217.2:c.227A>C , LRG_703t1:c.227A>C	NP_001120689.1:p.Asp76Ala
NM_005905.5:c.227A>C	NP_005896.1:p.Asp76Ala
XM_005266401.2:c.227A>C	XP_005266458.1:p.Asp76Ala
XM_005266403.2:c.227A>C	XP_005266460.1:p.Asp76Ala
XM_005266404.2:c.227A>C	XP_005266461.1:p.Asp76Ala
XM_006719827.2:c.227A>C	XP_006719890.1:p.Asp76Ala
XM_011535096.1:c.227A>C	XP_011533398.1:p.Asp76Ala
XM_005266401.3:c.227A>C	XP_005266458.1:p.Asp76Ala
XM_005266403.3:c.227A>C	XP_005266460.1:p.Asp76Ala
XM_005266404.3:c.227A>C	XP_005266461.1:p.Asp76Ala
XM_006719827.3:c.227A>C	XP_006719890.1:p.Asp76Ala
NM_001127217.3:c.227A>C MANE Select	NP_001120689.1:p.Asp76Ala
NM_005905.6:c.227A>C	NP_005896.1:p.Asp76Ala
NM_001378621.1:c.227A>C	NP_001365550.1:p.Asp76Ala