Canonical Allele Identifier: CA2629114847
Gene: SMAD3 HGNC NCBI

Linked Data

gnomAD v4: 15-67066053-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066053A>C , CM000677.2:g.67066053A>C GRCh38
NC_000015.9:g.67358391A>C , CM000677.1:g.67358391A>C GRCh37
NC_000015.8:g.65145445A>C NCBI36
NG_011990.1:g.5197A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559460.6:c.-110+2109A>C ENSP00000453082.2:n.-110+2109A>C
ENST00000560424.2:c.-102A>C ENSP00000455540.2:n.-102A>C
ENST00000327367.9:c.-102A>C MANE Select ENSP00000332973.4:n.-102A>C
ENST00000327367.8:c.-102A>C ENSP00000332973.4:n.-102A>C
ENST00000559460.5:c.-110+2109A>C ENSP00000453082.1:n.-110+2109A>C
NM_005902.3:c.-102A>C NP_005893.1:n.-102A>C
XM_011521559.1:c.-102A>C XP_011519861.1:n.-102A>C
NM_005902.4:c.-102A>C MANE Select NP_005893.1:n.-102A>C
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