Canonical Allele Identifier: CA393203029

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2696774
• ClinVar RCV Id: RCV003528550
• dbSNP Id: rs1243692313
• MyVariant Identifiers: chr15:g.67358653C>G (hg19) ; chr15:g.67066315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066315C>G , CM000677.2:g.67066315C>G	GRCh38
NC_000015.9:g.67358653C>G , CM000677.1:g.67358653C>G	GRCh37
NC_000015.8:g.65145707C>G	NCBI36
NG_011990.1:g.5459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2371C>G	ENSP00000453082.2:n.-110+2371C>G
ENST00000560424.2:c.161C>G	ENSP00000455540.2:p.Ala54Gly
ENST00000327367.9:c.161C>G MANE Select	ENSP00000332973.4:p.Ala54Gly
ENST00000327367.8:c.161C>G	ENSP00000332973.4:p.Ala54Gly
ENST00000559460.5:c.-110+2371C>G	ENSP00000453082.1:n.-110+2371C>G
NM_005902.3:c.161C>G	NP_005893.1:p.Ala54Gly
XM_011521559.1:c.161C>G	XP_011519861.1:p.Ala54Gly
XM_011521559.3:c.161C>G	XP_011519861.1:p.Ala54Gly
NM_005902.4:c.161C>G MANE Select	NP_005893.1:p.Ala54Gly