Canonical Allele Identifier: CA490918225

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479809C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187471C>T , CM000677.2:g.67187471C>T	GRCh38
NC_000015.9:g.67479809C>T , CM000677.1:g.67479809C>T	GRCh37
NC_000015.8:g.65266863C>T	NCBI36
NG_011990.1:g.126615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.531C>T	ENSP00000454165.2:p.Ile177=
ENST00000558739.2:c.801C>T	ENSP00000453684.2:p.Ile267=
ENST00000558827.2:c.531C>T	ENSP00000452767.2:p.Ile177=
ENST00000559460.6:c.801C>T	ENSP00000453082.2:p.Ile267=
ENST00000560424.2:c.1227C>T	ENSP00000455540.2:p.Ile409=
ENST00000327367.9:c.1116C>T MANE Select	ENSP00000332973.4:p.Ile372=
ENST00000679624.1:c.801C>T	ENSP00000505445.1:p.Ile267=
ENST00000680689.1:n.819C>T
ENST00000681239.1:c.801C>T	ENSP00000505641.1:p.Ile267=
ENST00000327367.8:c.1116C>T	ENSP00000332973.4:p.Ile372=
ENST00000439724.7:c.984C>T	ENSP00000401133.3:p.Ile328=
ENST00000537194.6:c.531C>T	ENSP00000445348.2:p.Ile177=
ENST00000540846.6:c.801C>T	ENSP00000437757.2:p.Ile267=
ENST00000558763.1:n.810C>T
ENST00000560402.1:n.283-5402C>T
ENST00000560424.1:c.308C>T
NM_001145102.1:c.801C>T	NP_001138574.1:p.Ile267=
NM_001145103.1:c.984C>T	NP_001138575.1:p.Ile328=
NM_001145104.1:c.531C>T	NP_001138576.1:p.Ile177=
NM_005902.3:c.1116C>T	NP_005893.1:p.Ile372=
XM_011521559.1:c.984C>T	XP_011519861.1:p.Ile328=
XM_011521560.1:c.969C>T	XP_011519862.1:p.Ile323=
XM_011521559.3:c.984C>T	XP_011519861.1:p.Ile328=
NM_005902.4:c.1116C>T MANE Select	NP_005893.1:p.Ile372=
NM_001145102.2:c.801C>T	NP_001138574.1:p.Ile267=
NM_001145103.2:c.984C>T	NP_001138575.1:p.Ile328=
NM_001145104.2:c.531C>T	NP_001138576.1:p.Ile177=