Canonical Allele Identifier: CA392953593

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67457274T>G (hg19) ; chr15:g.67164936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164936T>G , CM000677.2:g.67164936T>G	GRCh38
NC_000015.9:g.67457274T>G , CM000677.1:g.67457274T>G	GRCh37
NC_000015.8:g.65244328T>G	NCBI36
NG_011990.1:g.104080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-68T>G	ENSP00000453684.2:n.-68T>G
ENST00000559460.6:c.-68T>G	ENSP00000453082.2:n.-68T>G
ENST00000560424.2:c.248T>G	ENSP00000455540.2:p.Leu83Arg
ENST00000327367.9:c.248T>G MANE Select	ENSP00000332973.4:p.Leu83Arg
ENST00000679624.1:c.-68T>G	ENSP00000505445.1:n.-68T>G
ENST00000681239.1:c.-68T>G	ENSP00000505641.1:n.-68T>G
ENST00000327367.8:c.248T>G	ENSP00000332973.4:p.Leu83Arg
ENST00000439724.7:c.116T>G	ENSP00000401133.3:p.Leu39Arg
ENST00000540846.6:c.-68T>G	ENSP00000437757.2:n.-68T>G
ENST00000558739.1:c.-68T>G	ENSP00000453684.1:n.-68T>G
ENST00000558894.5:c.-68T>G	ENSP00000458060.1:n.-68T>G
ENST00000559092.1:c.193T>G	ENSP00000453788.1:p.Ser65Ala
ENST00000559460.5:c.-68T>G	ENSP00000453082.1:n.-68T>G
ENST00000559937.1:n.98T>G
ENST00000560175.5:c.-68T>G	ENSP00000455095.1:n.-68T>G
NM_001145102.1:c.-68T>G	NP_001138574.1:n.-68T>G
NM_001145103.1:c.116T>G	NP_001138575.1:p.Leu39Arg
NM_005902.3:c.248T>G	NP_005893.1:p.Leu83Arg
XM_011521559.1:c.248T>G	XP_011519861.1:p.Leu83Arg
XM_011521560.1:c.101T>G	XP_011519862.1:p.Leu34Arg
XM_011521559.3:c.248T>G	XP_011519861.1:p.Leu83Arg
NM_005902.4:c.248T>G MANE Select	NP_005893.1:p.Leu83Arg
NM_001145102.2:c.-68T>G	NP_001138574.1:n.-68T>G
NM_001145103.2:c.116T>G	NP_001138575.1:p.Leu39Arg