Canonical Allele Identifier: CA2184198248
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703271A= , CM000677.2:g.66703271A= GRCh38
NC_000015.9:g.66995609A= , CM000677.1:g.66995609A= GRCh37
NC_000015.8:g.64782663A= NCBI36
NG_012244.1:g.5936A=
NG_012244.2:g.5936A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.13A= MANE Select ENSP00000288840.5:p.Lys5=
ENST00000288840.9:c.13A= ENSP00000288840.5:p.Lys5=
ENST00000557916.5:c.13A= ENSP00000452955.1:p.Lys5=
ENST00000612349.1:n.195A=
NM_005585.4:c.13A= NP_005576.3:p.Lys5=
NR_027654.1:n.936A=
XR_931825.1:n.1172A=
XR_931826.1:n.1172A=
XR_931827.1:n.1172A=
XR_931827.2:n.1162A=
NM_005585.5:c.13A= MANE Select NP_005576.3:p.Lys5=
NR_027654.2:n.1036A=