Canonical Allele Identifier: CA490920572
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs139575773
MyVariant Identifiers: chr15:g.67485158C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67192820C>G , CM000677.2:g.67192820C>G GRCh38
NC_000015.9:g.67485158C>G , CM000677.1:g.67485158C>G GRCh37
NC_000015.8:g.65272212C>G NCBI36
NG_011990.1:g.131964C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.*2284C>G ENSP00000453684.2:n.*2284C>G
ENST00000559460.6:c.*2284C>G ENSP00000453082.2:n.*2284C>G
ENST00000327367.9:c.*2284C>G MANE Select ENSP00000332973.4:n.*2284C>G
ENST00000679624.1:c.*2284C>G ENSP00000505445.1:n.*2284C>G
ENST00000681239.1:c.*2284C>G ENSP00000505641.1:n.*2284C>G
ENST00000327367.8:c.*2284C>G ENSP00000332973.4:n.*2284C>G
ENST00000560402.1:n.283-53C>G
NM_001145102.1:c.*2284C>G NP_001138574.1:n.*2284C>G
NM_001145103.1:c.*2284C>G NP_001138575.1:n.*2284C>G
NM_001145104.1:c.*2284C>G NP_001138576.1:n.*2284C>G
NM_005902.3:c.*2284C>G NP_005893.1:n.*2284C>G
XM_011521559.1:c.*2284C>G XP_011519861.1:n.*2284C>G
XM_011521560.1:c.*2284C>G XP_011519862.1:n.*2284C>G
XM_011521559.3:c.*2284C>G XP_011519861.1:n.*2284C>G
NM_005902.4:c.*2284C>G MANE Select NP_005893.1:n.*2284C>G
NM_001145102.2:c.*2284C>G NP_001138574.1:n.*2284C>G
NM_001145103.2:c.*2284C>G NP_001138575.1:n.*2284C>G
NM_001145104.2:c.*2284C>G NP_001138576.1:n.*2284C>G