Canonical Allele Identifier: CA2184198277
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703318C= , CM000677.2:g.66703318C= GRCh38
NC_000015.9:g.66995656C= , CM000677.1:g.66995656C= GRCh37
NC_000015.8:g.64782710C= NCBI36
NG_012244.1:g.5983C=
NG_012244.2:g.5983C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.60C= MANE Select ENSP00000288840.5:p.Pro20=
ENST00000288840.9:c.60C= ENSP00000288840.5:p.Pro20=
ENST00000557916.5:c.60C= ENSP00000452955.1:p.Pro20=
ENST00000612349.1:n.242C=
NM_005585.4:c.60C= NP_005576.3:p.Pro20=
NR_027654.1:n.983C=
XR_931825.1:n.1219C=
XR_931826.1:n.1219C=
XR_931827.1:n.1219C=
XR_931827.2:n.1209C=
NM_005585.5:c.60C= MANE Select NP_005576.3:p.Pro20=
NR_027654.2:n.1083C=