Canonical Allele Identifier: CA490916500

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67477117C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184779C>A , CM000677.2:g.67184779C>A	GRCh38
NC_000015.9:g.67477117C>A , CM000677.1:g.67477117C>A	GRCh37
NC_000015.8:g.65264171C>A	NCBI36
NG_011990.1:g.123923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.339C>A	ENSP00000454165.2:p.Leu113=
ENST00000558739.2:c.609C>A	ENSP00000453684.2:p.Leu203=
ENST00000558827.2:c.339C>A	ENSP00000452767.2:p.Leu113=
ENST00000559460.6:c.609C>A	ENSP00000453082.2:p.Leu203=
ENST00000560424.2:c.924C>A	ENSP00000455540.2:p.Leu308=
ENST00000327367.9:c.924C>A MANE Select	ENSP00000332973.4:p.Leu308=
ENST00000679624.1:c.609C>A	ENSP00000505445.1:p.Leu203=
ENST00000680689.1:n.627C>A
ENST00000681239.1:c.609C>A	ENSP00000505641.1:p.Leu203=
ENST00000327367.8:c.924C>A	ENSP00000332973.4:p.Leu308=
ENST00000439724.7:c.792C>A	ENSP00000401133.3:p.Leu264=
ENST00000537194.6:c.339C>A	ENSP00000445348.2:p.Leu113=
ENST00000540846.6:c.609C>A	ENSP00000437757.2:p.Leu203=
ENST00000558894.5:c.557-2586C>A	ENSP00000458060.1:n.557-2586C>A
ENST00000560402.1:n.283-8094C>A
ENST00000560424.1:c.5C>A
NM_001145102.1:c.609C>A	NP_001138574.1:p.Leu203=
NM_001145103.1:c.792C>A	NP_001138575.1:p.Leu264=
NM_001145104.1:c.339C>A	NP_001138576.1:p.Leu113=
NM_005902.3:c.924C>A	NP_005893.1:p.Leu308=
XM_011521559.1:c.792C>A	XP_011519861.1:p.Leu264=
XM_011521560.1:c.777C>A	XP_011519862.1:p.Leu259=
XM_011521559.3:c.792C>A	XP_011519861.1:p.Leu264=
NM_005902.4:c.924C>A MANE Select	NP_005893.1:p.Leu308=
NM_001145102.2:c.609C>A	NP_001138574.1:p.Leu203=
NM_001145103.2:c.792C>A	NP_001138575.1:p.Leu264=
NM_001145104.2:c.339C>A	NP_001138576.1:p.Leu113=