Canonical Allele Identifier: CA491015179

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67358534C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066196C>T , CM000677.2:g.67066196C>T	GRCh38
NC_000015.9:g.67358534C>T , CM000677.1:g.67358534C>T	GRCh37
NC_000015.8:g.65145588C>T	NCBI36
NG_011990.1:g.5340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2252C>T	ENSP00000453082.2:n.-110+2252C>T
ENST00000560424.2:c.42C>T	ENSP00000455540.2:p.Arg14=
ENST00000327367.9:c.42C>T MANE Select	ENSP00000332973.4:p.Arg14=
ENST00000327367.8:c.42C>T	ENSP00000332973.4:p.Arg14=
ENST00000559460.5:c.-110+2252C>T	ENSP00000453082.1:n.-110+2252C>T
NM_005902.3:c.42C>T	NP_005893.1:p.Arg14=
XM_011521559.1:c.42C>T	XP_011519861.1:p.Arg14=
XM_011521559.3:c.42C>T	XP_011519861.1:p.Arg14=
NM_005902.4:c.42C>T MANE Select	NP_005893.1:p.Arg14=