Canonical Allele Identifier: CA392958333

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479829G>A (hg19) ; chr15:g.67187491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187491G>A , CM000677.2:g.67187491G>A	GRCh38
NC_000015.9:g.67479829G>A , CM000677.1:g.67479829G>A	GRCh37
NC_000015.8:g.65266883G>A	NCBI36
NG_011990.1:g.126635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.551G>A	ENSP00000454165.2:p.Gly184Asp
ENST00000558739.2:c.821G>A	ENSP00000453684.2:p.Gly274Asp
ENST00000558827.2:c.551G>A	ENSP00000452767.2:p.Gly184Asp
ENST00000559460.6:c.821G>A	ENSP00000453082.2:p.Gly274Asp
ENST00000560424.2:c.1247G>A	ENSP00000455540.2:p.Gly416Asp
ENST00000327367.9:c.1136G>A MANE Select	ENSP00000332973.4:p.Gly379Asp
ENST00000679624.1:c.821G>A	ENSP00000505445.1:p.Gly274Asp
ENST00000680689.1:n.839G>A
ENST00000681239.1:c.821G>A	ENSP00000505641.1:p.Gly274Asp
ENST00000327367.8:c.1136G>A	ENSP00000332973.4:p.Gly379Asp
ENST00000439724.7:c.1004G>A	ENSP00000401133.3:p.Gly335Asp
ENST00000537194.6:c.551G>A	ENSP00000445348.2:p.Gly184Asp
ENST00000540846.6:c.821G>A	ENSP00000437757.2:p.Gly274Asp
ENST00000558763.1:n.830G>A
ENST00000560402.1:n.283-5382G>A
ENST00000560424.1:c.328G>A
NM_001145102.1:c.821G>A	NP_001138574.1:p.Gly274Asp
NM_001145103.1:c.1004G>A	NP_001138575.1:p.Gly335Asp
NM_001145104.1:c.551G>A	NP_001138576.1:p.Gly184Asp
NM_005902.3:c.1136G>A	NP_005893.1:p.Gly379Asp
XM_011521559.1:c.1004G>A	XP_011519861.1:p.Gly335Asp
XM_011521560.1:c.989G>A	XP_011519862.1:p.Gly330Asp
XM_011521559.3:c.1004G>A	XP_011519861.1:p.Gly335Asp
NM_005902.4:c.1136G>A MANE Select	NP_005893.1:p.Gly379Asp
NM_001145102.2:c.821G>A	NP_001138574.1:p.Gly274Asp
NM_001145103.2:c.1004G>A	NP_001138575.1:p.Gly335Asp
NM_001145104.2:c.551G>A	NP_001138576.1:p.Gly184Asp