Canonical Allele Identifier: CA2184234669

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781060A= , CM000677.2:g.66781060A=	GRCh38
NC_000015.9:g.67073398A= , CM000677.1:g.67073398A=	GRCh37
NC_000015.8:g.64860452A=	NCBI36
NG_012244.1:g.83725A=
NG_012244.2:g.83725A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1016A= MANE Select	ENSP00000288840.5:p.His339=
ENST00000288840.9:c.1016A=	ENSP00000288840.5:p.His339=
ENST00000557916.5:c.1148A=	ENSP00000452955.1:n.1148A=
ENST00000559931.5:c.320A=	ENSP00000453446.1:n.320A=
NM_005585.4:c.1016A=	NP_005576.3:p.His339=
NR_027654.1:n.2071A=
XM_011521561.1:c.233A=	XP_011519863.1:p.His78=
XR_931825.1:n.2415A=
XM_011521561.2:c.233A=	XP_011519863.1:p.His78=
NM_005585.5:c.1016A= MANE Select	NP_005576.3:p.His339=
NR_027654.2:n.2171A=