Canonical Allele Identifier: CA2184198267
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703298T= , CM000677.2:g.66703298T= GRCh38
NC_000015.9:g.66995636T= , CM000677.1:g.66995636T= GRCh37
NC_000015.8:g.64782690T= NCBI36
NG_012244.1:g.5963T=
NG_012244.2:g.5963T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.40T= MANE Select ENSP00000288840.5:p.Trp14=
ENST00000288840.9:c.40T= ENSP00000288840.5:p.Trp14=
ENST00000557916.5:c.40T= ENSP00000452955.1:p.Trp14=
ENST00000612349.1:n.222T=
NM_005585.4:c.40T= NP_005576.3:p.Trp14=
NR_027654.1:n.963T=
XR_931825.1:n.1199T=
XR_931826.1:n.1199T=
XR_931827.1:n.1199T=
XR_931827.2:n.1189T=
NM_005585.5:c.40T= MANE Select NP_005576.3:p.Trp14=
NR_027654.2:n.1063T=