Canonical Allele Identifier: CA393203050
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1888632570
MyVariant Identifiers: chr15:g.67358664C>G (hg19) chr15:g.67066326C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066326C>G , CM000677.2:g.67066326C>G GRCh38
NC_000015.9:g.67358664C>G , CM000677.1:g.67358664C>G GRCh37
NC_000015.8:g.65145718C>G NCBI36
NG_011990.1:g.5470C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2382C>G ENSP00000453082.2:n.-110+2382C>G
ENST00000560424.2:c.172C>G ENSP00000455540.2:p.Gln58Glu
ENST00000327367.9:c.172C>G MANE Select ENSP00000332973.4:p.Gln58Glu
ENST00000327367.8:c.172C>G ENSP00000332973.4:p.Gln58Glu
ENST00000559460.5:c.-110+2382C>G ENSP00000453082.1:n.-110+2382C>G
NM_005902.3:c.172C>G NP_005893.1:p.Gln58Glu
XM_011521559.1:c.172C>G XP_011519861.1:p.Gln58Glu
XM_011521559.3:c.172C>G XP_011519861.1:p.Gln58Glu
NM_005902.4:c.172C>G MANE Select NP_005893.1:p.Gln58Glu
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