Canonical Allele Identifier: CA2184198255

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703283C= , CM000677.2:g.66703283C=	GRCh38
NC_000015.9:g.66995621C= , CM000677.1:g.66995621C=	GRCh37
NC_000015.8:g.64782675C=	NCBI36
NG_012244.1:g.5948C=
NG_012244.2:g.5948C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.25C= MANE Select	ENSP00000288840.5:p.Leu9=
ENST00000288840.9:c.25C=	ENSP00000288840.5:p.Leu9=
ENST00000557916.5:c.25C=	ENSP00000452955.1:p.Leu9=
ENST00000612349.1:n.207C=
NM_005585.4:c.25C=	NP_005576.3:p.Leu9=
NR_027654.1:n.948C=
XR_931825.1:n.1184C=
XR_931826.1:n.1184C=
XR_931827.1:n.1184C=
XR_931827.2:n.1174C=
NM_005585.5:c.25C= MANE Select	NP_005576.3:p.Leu9=
NR_027654.2:n.1048C=