Canonical Allele Identifier: CA062232

Gene: SMAD3

Linked Data

• dbSNP Id: rs760233525
• ExAC: 15:67457616 C / G
• gnomAD v2: 15-67457616-C-G
• gnomAD v4: 15-67165278-C-G
• MyVariant Identifiers: chr15:g.67457616C>G (hg19) ; chr15:g.67165278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165278C>G , CM000677.2:g.67165278C>G	GRCh38
NC_000015.9:g.67457616C>G , CM000677.1:g.67457616C>G	GRCh37
NC_000015.8:g.65244670C>G	NCBI36
NG_011990.1:g.104422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.111C>G	ENSP00000453684.2:p.Arg37=
ENST00000559460.6:c.111C>G	ENSP00000453082.2:p.Arg37=
ENST00000560424.2:c.426C>G	ENSP00000455540.2:p.Arg142=
ENST00000327367.9:c.426C>G MANE Select	ENSP00000332973.4:p.Arg142=
ENST00000679624.1:c.111C>G	ENSP00000505445.1:p.Arg37=
ENST00000681239.1:c.111C>G	ENSP00000505641.1:p.Arg37=
ENST00000327367.8:c.426C>G	ENSP00000332973.4:p.Arg142=
ENST00000439724.7:c.294C>G	ENSP00000401133.3:p.Arg98=
ENST00000540846.6:c.111C>G	ENSP00000437757.2:p.Arg37=
ENST00000558739.1:c.111C>G	ENSP00000453684.1:p.Arg37=
ENST00000558894.5:c.111C>G	ENSP00000458060.1:p.Arg37=
ENST00000559460.5:c.111C>G	ENSP00000453082.1:p.Arg37=
ENST00000559937.1:n.276C>G
ENST00000560175.5:c.111C>G	ENSP00000455095.1:p.Arg37=
NM_001145102.1:c.111C>G	NP_001138574.1:p.Arg37=
NM_001145103.1:c.294C>G	NP_001138575.1:p.Arg98=
NM_005902.3:c.426C>G	NP_005893.1:p.Arg142=
XM_011521559.1:c.400+190C>G	XP_011519861.1:n.400+190C>G
XM_011521560.1:c.279C>G	XP_011519862.1:p.Arg93=
XM_011521559.3:c.400+190C>G	XP_011519861.1:n.400+190C>G
NM_005902.4:c.426C>G MANE Select	NP_005893.1:p.Arg142=
NM_001145102.2:c.111C>G	NP_001138574.1:p.Arg37=
NM_001145103.2:c.294C>G	NP_001138575.1:p.Arg98=