Canonical Allele Identifier: CA393203008
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774599
ClinVar RCV Id: RCV002402948
MyVariant Identifiers: chr15:g.67358644T>C (hg19) chr15:g.67066306T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066306T>C , CM000677.2:g.67066306T>C GRCh38
NC_000015.9:g.67358644T>C , CM000677.1:g.67358644T>C GRCh37
NC_000015.8:g.65145698T>C NCBI36
NG_011990.1:g.5450T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2362T>C ENSP00000453082.2:n.-110+2362T>C
ENST00000560424.2:c.152T>C ENSP00000455540.2:p.Leu51Pro
ENST00000327367.9:c.152T>C MANE Select ENSP00000332973.4:p.Leu51Pro
ENST00000327367.8:c.152T>C ENSP00000332973.4:p.Leu51Pro
ENST00000559460.5:c.-110+2362T>C ENSP00000453082.1:n.-110+2362T>C
NM_005902.3:c.152T>C NP_005893.1:p.Leu51Pro
XM_011521559.1:c.152T>C XP_011519861.1:p.Leu51Pro
XM_011521559.3:c.152T>C XP_011519861.1:p.Leu51Pro
NM_005902.4:c.152T>C MANE Select NP_005893.1:p.Leu51Pro
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