Canonical Allele Identifier: CA393202775
Gene: SMAD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.67358547A>C (hg19) chr15:g.67066209A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066209A>C , CM000677.2:g.67066209A>C GRCh38
NC_000015.9:g.67358547A>C , CM000677.1:g.67358547A>C GRCh37
NC_000015.8:g.65145601A>C NCBI36
NG_011990.1:g.5353A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2265A>C ENSP00000453082.2:n.-110+2265A>C
ENST00000560424.2:c.55A>C ENSP00000455540.2:p.Lys19Gln
ENST00000327367.9:c.55A>C MANE Select ENSP00000332973.4:p.Lys19Gln
ENST00000327367.8:c.55A>C ENSP00000332973.4:p.Lys19Gln
ENST00000559460.5:c.-110+2265A>C ENSP00000453082.1:n.-110+2265A>C
NM_005902.3:c.55A>C NP_005893.1:p.Lys19Gln
XM_011521559.1:c.55A>C XP_011519861.1:p.Lys19Gln
XM_011521559.3:c.55A>C XP_011519861.1:p.Lys19Gln
NM_005902.4:c.55A>C MANE Select NP_005893.1:p.Lys19Gln
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