Canonical Allele Identifier: CA2184198245
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703266G= , CM000677.2:g.66703266G= GRCh38
NC_000015.9:g.66995604G= , CM000677.1:g.66995604G= GRCh37
NC_000015.8:g.64782658G= NCBI36
NG_012244.1:g.5931G=
NG_012244.2:g.5931G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.8G= MANE Select ENSP00000288840.5:p.Arg3=
ENST00000288840.9:c.8G= ENSP00000288840.5:p.Arg3=
ENST00000557916.5:c.8G= ENSP00000452955.1:p.Arg3=
ENST00000612349.1:n.190G=
NM_005585.4:c.8G= NP_005576.3:p.Arg3=
NR_027654.1:n.931G=
XR_931825.1:n.1167G=
XR_931826.1:n.1167G=
XR_931827.1:n.1167G=
XR_931827.2:n.1157G=
NM_005585.5:c.8G= MANE Select NP_005576.3:p.Arg3=
NR_027654.2:n.1031G=