Canonical Allele Identifier: CA392958281

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479807A>G (hg19) ; chr15:g.67187469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187469A>G , CM000677.2:g.67187469A>G	GRCh38
NC_000015.9:g.67479807A>G , CM000677.1:g.67479807A>G	GRCh37
NC_000015.8:g.65266861A>G	NCBI36
NG_011990.1:g.126613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.529A>G	ENSP00000454165.2:p.Ile177Val
ENST00000558739.2:c.799A>G	ENSP00000453684.2:p.Ile267Val
ENST00000558827.2:c.529A>G	ENSP00000452767.2:p.Ile177Val
ENST00000559460.6:c.799A>G	ENSP00000453082.2:p.Ile267Val
ENST00000560424.2:c.1225A>G	ENSP00000455540.2:p.Ile409Val
ENST00000327367.9:c.1114A>G MANE Select	ENSP00000332973.4:p.Ile372Val
ENST00000679624.1:c.799A>G	ENSP00000505445.1:p.Ile267Val
ENST00000680689.1:n.817A>G
ENST00000681239.1:c.799A>G	ENSP00000505641.1:p.Ile267Val
ENST00000327367.8:c.1114A>G	ENSP00000332973.4:p.Ile372Val
ENST00000439724.7:c.982A>G	ENSP00000401133.3:p.Ile328Val
ENST00000537194.6:c.529A>G	ENSP00000445348.2:p.Ile177Val
ENST00000540846.6:c.799A>G	ENSP00000437757.2:p.Ile267Val
ENST00000558763.1:n.808A>G
ENST00000560402.1:n.283-5404A>G
ENST00000560424.1:c.306A>G
NM_001145102.1:c.799A>G	NP_001138574.1:p.Ile267Val
NM_001145103.1:c.982A>G	NP_001138575.1:p.Ile328Val
NM_001145104.1:c.529A>G	NP_001138576.1:p.Ile177Val
NM_005902.3:c.1114A>G	NP_005893.1:p.Ile372Val
XM_011521559.1:c.982A>G	XP_011519861.1:p.Ile328Val
XM_011521560.1:c.967A>G	XP_011519862.1:p.Ile323Val
XM_011521559.3:c.982A>G	XP_011519861.1:p.Ile328Val
NM_005902.4:c.1114A>G MANE Select	NP_005893.1:p.Ile372Val
NM_001145102.2:c.799A>G	NP_001138574.1:p.Ile267Val
NM_001145103.2:c.982A>G	NP_001138575.1:p.Ile328Val
NM_001145104.2:c.529A>G	NP_001138576.1:p.Ile177Val