Canonical Allele Identifier: CA2184234631

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781016C= , CM000677.2:g.66781016C=	GRCh38
NC_000015.9:g.67073354C= , CM000677.1:g.67073354C=	GRCh37
NC_000015.8:g.64860408C=	NCBI36
NG_012244.1:g.83681C=
NG_012244.2:g.83681C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.972C= MANE Select	ENSP00000288840.5:p.Asp324=
ENST00000288840.9:c.972C=	ENSP00000288840.5:p.Asp324=
ENST00000557916.5:c.1104C=	ENSP00000452955.1:n.1104C=
ENST00000559931.5:c.276C=	ENSP00000453446.1:n.276C=
NM_005585.4:c.972C=	NP_005576.3:p.Asp324=
NR_027654.1:n.2027C=
XM_011521561.1:c.189C=	XP_011519863.1:p.Asp63=
XR_931825.1:n.2371C=
XM_011521561.2:c.189C=	XP_011519863.1:p.Asp63=
NM_005585.5:c.972C= MANE Select	NP_005576.3:p.Asp324=
NR_027654.2:n.2127C=