Canonical Allele Identifier: CA491015600

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1910412
• ClinVar RCV Id: RCV002593253
• gnomAD v4: 15-67066277-A-G
• MyVariant Identifiers: chr15:g.67358615A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066277A>G , CM000677.2:g.67066277A>G	GRCh38
NC_000015.9:g.67358615A>G , CM000677.1:g.67358615A>G	GRCh37
NC_000015.8:g.65145669A>G	NCBI36
NG_011990.1:g.5421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2333A>G	ENSP00000453082.2:n.-110+2333A>G
ENST00000560424.2:c.123A>G	ENSP00000455540.2:p.Lys41=
ENST00000327367.9:c.123A>G MANE Select	ENSP00000332973.4:p.Lys41=
ENST00000327367.8:c.123A>G	ENSP00000332973.4:p.Lys41=
ENST00000559460.5:c.-110+2333A>G	ENSP00000453082.1:n.-110+2333A>G
NM_005902.3:c.123A>G	NP_005893.1:p.Lys41=
XM_011521559.1:c.123A>G	XP_011519861.1:p.Lys41=
XM_011521559.3:c.123A>G	XP_011519861.1:p.Lys41=
NM_005902.4:c.123A>G MANE Select	NP_005893.1:p.Lys41=