Canonical Allele Identifier: CA2184198273
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703308G= , CM000677.2:g.66703308G= GRCh38
NC_000015.9:g.66995646G= , CM000677.1:g.66995646G= GRCh37
NC_000015.8:g.64782700G= NCBI36
NG_012244.1:g.5973G=
NG_012244.2:g.5973G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.50G= MANE Select ENSP00000288840.5:p.Arg17=
ENST00000288840.9:c.50G= ENSP00000288840.5:p.Arg17=
ENST00000557916.5:c.50G= ENSP00000452955.1:p.Arg17=
ENST00000612349.1:n.232G=
NM_005585.4:c.50G= NP_005576.3:p.Arg17=
NR_027654.1:n.973G=
XR_931825.1:n.1209G=
XR_931826.1:n.1209G=
XR_931827.1:n.1209G=
XR_931827.2:n.1199G=
NM_005585.5:c.50G= MANE Select NP_005576.3:p.Arg17=
NR_027654.2:n.1073G=