Canonical Allele Identifier: CA325173
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 213797
ClinVar RCV Id: RCV000200589 RCV001387277
dbSNP Id: rs863223762
MyVariant Identifiers: chr15:g.67358646G>T (hg19) chr15:g.67066308G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066308G>T , CM000677.2:g.67066308G>T GRCh38
NC_000015.9:g.67358646G>T , CM000677.1:g.67358646G>T GRCh37
NC_000015.8:g.65145700G>T NCBI36
NG_011990.1:g.5452G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559460.6:c.-110+2364G>T ENSP00000453082.2:n.-110+2364G>T
ENST00000560424.2:c.154G>T ENSP00000455540.2:p.Glu52Ter
ENST00000327367.9:c.154G>T MANE Select ENSP00000332973.4:p.Glu52Ter
ENST00000327367.8:c.154G>T ENSP00000332973.4:p.Glu52Ter
ENST00000559460.5:c.-110+2364G>T ENSP00000453082.1:n.-110+2364G>T
NM_005902.3:c.154G>T NP_005893.1:p.Glu52Ter
XM_011521559.1:c.154G>T XP_011519861.1:p.Glu52Ter
XM_011521559.3:c.154G>T XP_011519861.1:p.Glu52Ter
NM_005902.4:c.154G>T MANE Select NP_005893.1:p.Glu52Ter
Search 100 bp 5'
Search 100 bp 3'