Canonical Allele Identifier: CA491015074

Gene: SMAD3

Linked Data

• dbSNP Id: rs191495317
• gnomAD v2: 15-67358510-T-G
• gnomAD v4: 15-67066172-T-G
• MyVariant Identifiers: chr15:g.67358510T>G (hg19) ; chr15:g.67066172T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066172T>G , CM000677.2:g.67066172T>G	GRCh38
NC_000015.9:g.67358510T>G , CM000677.1:g.67358510T>G	GRCh37
NC_000015.8:g.65145564T>G	NCBI36
NG_011990.1:g.5316T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2228T>G	ENSP00000453082.2:n.-110+2228T>G
ENST00000560424.2:c.18T>G	ENSP00000455540.2:p.Pro6=
ENST00000327367.9:c.18T>G MANE Select	ENSP00000332973.4:p.Pro6=
ENST00000327367.8:c.18T>G	ENSP00000332973.4:p.Pro6=
ENST00000559460.5:c.-110+2228T>G	ENSP00000453082.1:n.-110+2228T>G
NM_005902.3:c.18T>G	NP_005893.1:p.Pro6=
XM_011521559.1:c.18T>G	XP_011519861.1:p.Pro6=
XM_011521559.3:c.18T>G	XP_011519861.1:p.Pro6=
NM_005902.4:c.18T>G MANE Select	NP_005893.1:p.Pro6=